A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982220



Internal ID18270729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39081452..39195422hg38UCSC Ensembl
Innerchr9:39081449..39195419hg19UCSC Ensembl
Innerchr9:39071449..39185419hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38113971
hg19113971
hg18113971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2529823, nssv2529830, nssv2529826, nssv2529828, nssv2529824, nssv2529827, nssv2529822, nssv2529829, nssv2529825, nssv2529831
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCNTNAP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982220
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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