A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961782



Internal ID18597028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63750093..63752582hg38UCSC Ensembl
Innerchr2:63977227..63979716hg19UCSC Ensembl
Innerchr2:63830731..63833220hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg382490
hg192490
hg182490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173238, nssv2173240, nssv2173239, nssv2173236, nssv2173243, nssv2173241, nssv2173245, nssv2173242, nssv2173237, nssv2173244
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)nsv961782
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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