A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2171841



Internal ID17866230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55432365..55441426hg38UCSC Ensembl
Innerchr2:55659501..55668562hg19UCSC Ensembl
Innerchr2:55513005..55522066hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg389062
hg199062
hg189062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961778
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2171841
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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