A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968140



Internal ID18603368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14648793..14653173hg38UCSC Ensembl
Innerchr5:14648902..14653282hg19UCSC Ensembl
Innerchr5:14701902..14706282hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg384381
hg194381
hg184381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2347141, nssv2347140, nssv2347139, nssv2347138, nssv2347142, nssv2347133, nssv2347134, nssv2347137, nssv2347136, nssv2347135
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968140
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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