A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961877



Internal ID18597123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128086277..128089789hg38UCSC Ensembl
Innerchr2:128843851..128847363hg19UCSC Ensembl
Innerchr2:128560321..128563833hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383513
hg193513
hg183513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2202323, nssv2202331, nssv2202328, nssv2202325, nssv2202324, nssv2202330, nssv2202327, nssv2202326, nssv2202332, nssv2202329
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)nsv961877
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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