A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2031261



Internal ID17888688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:75846863..75868126hg38UCSC Ensembl
Innerchr15:76139204..76160467hg19UCSC Ensembl
Innerchr15:73926259..73947522hg18UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3821264
hg1921264
hg1821264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974601
Supporting Variants
SamplesHGDP01307
Known GenesUBE2Q2
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)nssv2031261
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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