A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968239



Internal ID18603467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123615462..123616649hg38UCSC Ensembl
Innerchr5:122951156..122952343hg19UCSC Ensembl
Innerchr5:122979055..122980242hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381188
hg191188
hg181188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2374736, nssv2374730, nssv2374732, nssv2374737, nssv2374731, nssv2374739, nssv2374738, nssv2374735, nssv2374733, nssv2374734
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCSNK1G3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968239
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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