A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961552



Internal ID18250112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202924771..202925987hg38UCSC Ensembl
Innerchr2:203789494..203790710hg19UCSC Ensembl
Innerchr2:203497739..203498955hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381217
hg191217
hg181217
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217467, nssv2217472, nssv2217473, nssv2217475, nssv2217474, nssv2217470, nssv2217468, nssv2217469, nssv2217471, nssv2217466
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCARF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961552
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer