A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979836



Internal ID18615037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54625914..54627047hg38UCSC Ensembl
Innerchr3:54659941..54661074hg19UCSC Ensembl
Innerchr3:54634981..54636114hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381134
hg191134
hg181134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2284554, nssv2284555, nssv2284557, nssv2284562, nssv2284560, nssv2284563, nssv2284556, nssv2284561, nssv2284559, nssv2284558
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCACNA2D3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979836
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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