A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961926



Internal ID18597172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208055829..208059526hg38UCSC Ensembl
Innerchr2:208920553..208924250hg19UCSC Ensembl
Innerchr2:208628798..208632495hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383698
hg193698
hg183698
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2220588, nssv2220594, nssv2220586, nssv2220589, nssv2220591, nssv2220590, nssv2220587, nssv2220593, nssv2220592, nssv2220585
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)nsv961926
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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