A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961525



Internal ID18596771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166610790..166615228hg38UCSC Ensembl
Innerchr2:167467300..167471738hg19UCSC Ensembl
Innerchr2:167175546..167179984hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384439
hg194439
hg184439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2209783, nssv2209785, nssv2209784, nssv2209787, nssv2209789, nssv2209786, nssv2209791, nssv2209792, nssv2209788, nssv2209790
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)nsv961525
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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