A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960080



Internal ID18595333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27411872..27433976hg38UCSC Ensembl
Innerchr17:25738898..25761002hg19UCSC Ensembl
Innerchr17:22763025..22785129hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3822105
hg1922105
hg1822105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2087445, nssv2087450, nssv2087449, nssv2087448, nssv2087444, nssv2087443, nssv2087451, nssv2087447, nssv2087446, nssv2087452
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTBC1D3P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960080
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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