A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2214610



Internal ID17539328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190216386..190219936hg38UCSC Ensembl
Innerchr2:191081112..191084662hg19UCSC Ensembl
Innerchr2:190789357..190792907hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383551
hg193551
hg183551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961920
Supporting Variants
SamplesHGDP01307
Known GenesHIBCH
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)nssv2214610
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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