A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963322



Internal ID18598563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53061485..53064710hg38UCSC Ensembl
Innerchr3:53095501..53098726hg19UCSC Ensembl
Innerchr3:53070541..53073766hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg383226
hg193226
hg183226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2283504, nssv2283507, nssv2283500, nssv2283501, nssv2283498, nssv2283506, nssv2283502, nssv2283503, nssv2283499, nssv2283505
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)nsv963322
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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