A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962346



Internal ID18597590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58660878..58661492hg38UCSC Ensembl
Innerchr17:56738239..56738853hg19UCSC Ensembl
Innerchr17:54093238..54093852hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38615
hg19615
hg18615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2104145, nssv2104147, nssv2104150, nssv2104152, nssv2104144, nssv2104146, nssv2104151, nssv2104149, nssv2104148, nssv2104143
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTEX14
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962346
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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