A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978424



Internal ID18613629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41381805..41382447hg38UCSC Ensembl
Innerchr17:39538057..39538699hg19UCSC Ensembl
Innerchr17:36791583..36792225hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38643
hg19643
hg18643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2096124, nssv2096120, nssv2096121, nssv2096117, nssv2096119, nssv2096122, nssv2096123, nssv2096118, nssv2096116, nssv2096115
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT34
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978424
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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