A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960490



Internal ID18249055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41585499..41594294hg38UCSC Ensembl
Innerchr17:39741751..39750546hg19UCSC Ensembl
Innerchr17:36995277..37004072hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg388796
hg198796
hg188796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2097159, nssv2097158, nssv2097157, nssv2097160, nssv2097164, nssv2097156, nssv2097165, nssv2097163, nssv2097161, nssv2097162
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKRT14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960490
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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