A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961391



Internal ID18596637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31815598..31823337hg38UCSC Ensembl
Innerchr2:32040667..32048406hg19UCSC Ensembl
Innerchr2:31894171..31901910hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg387740
hg197740
hg187740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167244, nssv2167248, nssv2168553, nssv2167251, nssv2167247, nssv2167250, nssv2167249, nssv2167252, nssv2167246, nssv2167245
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)nsv961391
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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