A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960514



Internal ID18249079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60256720..60258657hg38UCSC Ensembl
Innerchr17:58334081..58336018hg19UCSC Ensembl
Innerchr17:55688863..55690800hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381938
hg191938
hg181938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2104841, nssv2104838, nssv2104842, nssv2104839, nssv2104835, nssv2104843, nssv2104836, nssv2104837, nssv2104840, nssv2104834
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)nsv960514
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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