A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963623



Internal ID18598863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74628013..74628743hg38UCSC Ensembl
Innerchr2:74855140..74855870hg19UCSC Ensembl
Innerchr2:74708648..74709378hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38731
hg19731
hg18731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2177819, nssv2177813, nssv2177814, nssv2177822, nssv2177818, nssv2177815, nssv2177817, nssv2177816, nssv2177820, nssv2177821
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesM1AP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963623
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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