A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2219509



Internal ID17848650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206419069..206422896hg38UCSC Ensembl
Innerchr2:207283793..207287620hg19UCSC Ensembl
Innerchr2:206992038..206995865hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383828
hg193828
hg183828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961924
Supporting Variants
SamplesHGDP01029
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)nssv2219509
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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