A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963665



Internal ID18252219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96216515..96239873hg38UCSC Ensembl
Innerchr2:96882253..96905611hg19UCSC Ensembl
Innerchr2:96245980..96269338hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3823359
hg1923359
hg1823359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2189803, nssv2189806, nssv2189809, nssv2189804, nssv2189812, nssv2189810, nssv2189807, nssv2189811, nssv2189808, nssv2189805
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTARD7-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963665
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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