A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961492



Internal ID18596738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113434787..113479374hg38UCSC Ensembl
Innerchr2:114192364..114236951hg19UCSC Ensembl
Innerchr2:113908834..113953421hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3844588
hg1944588
hg1844588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2199406, nssv2199407, nssv2199399, nssv2199404, nssv2199403, nssv2199402, nssv2199405, nssv2199400, nssv2199408, nssv2199401
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCBWD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961492
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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