A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961924



Internal ID18597170
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 StatusM
Merged Variants
Supporting Variantsnssv2219510, nssv2219508, nssv2219504, nssv2219506, nssv2219507, nssv2219502, nssv2219511, nssv2219503, nssv2219505, nssv2219509
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961924
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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