A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960467



Internal ID18249032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35859034..35862834hg38UCSC Ensembl
Innerchr17:34186038..34189838hg19UCSC Ensembl
Innerchr17:31210151..31213951hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383801
hg193801
hg183801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2092278, nssv2092279, nssv2092283, nssv2092285, nssv2092276, nssv2092284, nssv2092280, nssv2092277, nssv2092281, nssv2092282
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC17orf66
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960467
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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