A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2376896



Internal ID17776341
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 StatusS
Merged Variantsnsv980732
Supporting Variants
SamplesHGDP00542
Known GenesUBE2D2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2376896
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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