A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980732



Internal ID18615932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139607507..139612195hg38UCSC Ensembl
Innerchr5:138987092..138991780hg19UCSC Ensembl
Innerchr5:138967276..138971964hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384689
hg194689
hg184689
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2376894, nssv2376890, nssv2376899, nssv2376897, nssv2376898, nssv2376892, nssv2376896, nssv2376891, nssv2376895, nssv2376893
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBE2D2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980732
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer