A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978457



Internal ID18613662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67824512..67827825hg38UCSC Ensembl
Innerchr17:65820628..65823941hg19UCSC Ensembl
Innerchr17:63251090..63254403hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383314
hg193314
hg183314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2109186, nssv2109190, nssv2109194, nssv2109191, nssv2109193, nssv2109187, nssv2109189, nssv2109195, nssv2109188, nssv2109192
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBPTF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978457
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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