A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962319



Internal ID18597563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38833654..38835702hg38UCSC Ensembl
Innerchr17:36989907..36991955hg19UCSC Ensembl
Innerchr17:34243433..34245481hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382049
hg192049
hg182049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2093415, nssv2093421, nssv2093416, nssv2093423, nssv2093422, nssv2093417, nssv2093420, nssv2093418, nssv2093419, nssv2093424
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC17orf98
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962319
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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