<status value="draft" /> <date value="2024-06-18" /> <publisher value="openEHR" /> <contact> <telecom> <system value="url" /> <value value="http://www.veratech.es" /> </telecom> </contact> <description value="A human genetic sequence change where, compared to a genomic reference sequence, a DNA segment, usually larger than 1 kilobase (kb), was deleted or duplicated." /> <purpose value="To record the details about a copy number variant of human DNA, observed in a genomic sequence." /> <fhirVersion value="4.0.0" /> <mapping> <identity value="openEHR" /> <uri value="http://openehr.org" /> <name value="openEHR Mapping" /> </mapping> <mapping> <identity value="openEHR-natural" /> <uri value="http://openehr.org" /> <name value="openEHR natural path" /> </mapping> <kind value="logical" /> <abstract value="false" /> <type value="StructureDefinition" /> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Element" /> <snapshot> <element id="Genomic_copy_number_variant"> <path value="Genomic_copy_number_variant" /> <short value="Genomic copy number variant" /> <definition value="A human genetic sequence change where, compared to a genomic reference sequence, a DNA segment, usually larger than 1 kilobase (kb), was deleted or duplicated." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant" /> <min value="1" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.Start"> <path value="Genomic_copy_number_variant.Start" /> <short value="Start" /> <definition value="Position or range of possible positions of the first nucleotide of the CNV." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Start" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_copy_number_variant.Start.value_DV_COUNT"> <path value="Genomic_copy_number_variant.Start.value_DV_COUNT" /> <short value="Start" /> <definition value="Position or range of possible positions of the first nucleotide of the CNV." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Start.value_DV_COUNT" /> <min value="0" /> <max value="1" /> </base> <type> <code value="Quantity" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.Start.value_DV_INTERVAL_DV_COUNT_"> <path value="Genomic_copy_number_variant.Start.value_DV_INTERVAL_DV_COUNT_" /> <short value="Start" /> <definition value="Position or range of possible positions of the first nucleotide of the CNV." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Start.value_DV_INTERVAL_DV_COUNT_" /> <min value="0" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.End"> <path value="Genomic_copy_number_variant.End" /> <short value="End" /> <definition value="Position or range of possible positions of the last nucleotide of the CNV." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.End" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_copy_number_variant.End.value_DV_COUNT"> <path value="Genomic_copy_number_variant.End.value_DV_COUNT" /> <short value="End" /> <definition value="Position or range of possible positions of the last nucleotide of the CNV." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.End.value_DV_COUNT" /> <min value="0" /> <max value="1" /> </base> <type> <code value="Quantity" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.End.value_DV_INTERVAL_DV_COUNT_"> <path value="Genomic_copy_number_variant.End.value_DV_INTERVAL_DV_COUNT_" /> <short value="End" /> <definition value="Position or range of possible positions of the last nucleotide of the CNV." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.End.value_DV_INTERVAL_DV_COUNT_" /> <min value="0" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.Total_copy_number"> <path value="Genomic_copy_number_variant.Total_copy_number" /> <short value="Total copy number" /> <definition value="Number of appearance of the allele." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Total_copy_number" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_copy_number_variant.Total_copy_number.value_DV_COUNT"> <path value="Genomic_copy_number_variant.Total_copy_number.value_DV_COUNT" /> <short value="Total copy number" /> <definition value="Number of appearance of the allele." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Total_copy_number.value_DV_COUNT" /> <min value="0" /> <max value="1" /> </base> <type> <code value="Quantity" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.Total_copy_number.value_DvQuantity"> <path value="Genomic_copy_number_variant.Total_copy_number.value_DvQuantity" /> <short value="Total copy number" /> <definition value="Number of appearance of the allele." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Total_copy_number.value_DvQuantity" /> <min value="1" /> <max value="1" /> </base> <type> <code value="Quantity" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.Copy_number_change_type"> <path value="Genomic_copy_number_variant.Copy_number_change_type" /> <short value="Copy number change type" /> <definition value="Type of sequence alteration." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Copy_number_change_type" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_copy_number_variant.Copy_number_change_type.value"> <path value="Genomic_copy_number_variant.Copy_number_change_type.value" /> <short value="Copy number change type" /> <definition value="Type of sequence alteration." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_copy_number_variant.Copy_number_change_type.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_copy_number_variant.Reference_sequence"> <path value="Genomic_copy_number_variant.Reference_sequence" /> <short value="Reference sequence" /> <definition value="The sequence file used as a reference to describe this variant." /> <min value="0" /> <max value="*" /> <base> <path value="Genomic_copy_number_variant.Reference_sequence" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> </snapshot> </StructureDefinition>