A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962291



Internal ID18597535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21257766..21260691hg38UCSC Ensembl
Innerchr17:21161078..21164003hg19UCSC Ensembl
Innerchr17:21101671..21104596hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382926
hg192926
hg182926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2085246, nssv2085247, nssv2085248, nssv2085250, nssv2085241, nssv2085249, nssv2085244, nssv2085242, nssv2085243, nssv2085245
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)nsv962291
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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