A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978991



Internal ID18614194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32202821..32203821hg38UCSC Ensembl
Innerchr2:32427890..32428890hg19UCSC Ensembl
Innerchr2:32281394..32282394hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167439, nssv2167438, nssv2167443, nssv2167444, nssv2167442, nssv2167445, nssv2167446, nssv2167440, nssv2167441, nssv2167437
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC30A6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978991
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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