A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972702



Internal ID18261232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40223888..40362627hg38UCSC Ensembl
Innerchr9:42368906..42507645hg19UCSC Ensembl
Innerchr9:42358902..42497641hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg38138740
hg19138740
hg18138740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2536217, nssv2536215, nssv2536209, nssv2536211, nssv2536218, nssv2536210, nssv2536216, nssv2536214, nssv2536212, nssv2536213
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A2, ANKRD20A3, FAM95B1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972702
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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