A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967599



Internal ID18602827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62855530..62856699hg38UCSC Ensembl
Innerchr8:63768089..63769258hg19UCSC Ensembl
Innerchr8:63930643..63931812hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2505471, nssv2505465, nssv2505469, nssv2505464, nssv2505470, nssv2505467, nssv2505472, nssv2505466, nssv2505473, nssv2505468
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNKAIN3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967599
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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