A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962322



Internal ID18597566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41394752..41395514hg38UCSC Ensembl
Innerchr17:39551004..39551766hg19UCSC Ensembl
Innerchr17:36804530..36805292hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38763
hg19763
hg18763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2096481, nssv2096477, nssv2096478, nssv2096480, nssv2096482, nssv2096485, nssv2096479, nssv2096483, nssv2096476, nssv2096484
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT31
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962322
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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