A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961778



Internal ID18597024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55432365..55441426hg38UCSC Ensembl
Innerchr2:55659501..55668562hg19UCSC Ensembl
Innerchr2:55513005..55522066hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg389062
hg199062
hg189062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171845, nssv2171837, nssv2171843, nssv2171840, nssv2171838, nssv2171844, nssv2171842, nssv2171841, nssv2171839, nssv2171846
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961778
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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