A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962351



Internal ID18250909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60173418..60213764hg38UCSC Ensembl
Innerchr17:58250779..58291125hg19UCSC Ensembl
Innerchr17:55605561..55645907hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3840347
hg1940347
hg1840347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2105595, nssv2105591, nssv2105592, nssv2105597, nssv2105598, nssv2105589, nssv2105596, nssv2105593, nssv2105594, nssv2105590
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUSP32
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962351
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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