A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979163



Internal ID18614366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199659701..199662424hg38UCSC Ensembl
Innerchr2:200524424..200527147hg19UCSC Ensembl
Innerchr2:200232669..200235392hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382724
hg192724
hg182724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217062, nssv2217059, nssv2217064, nssv2217063, nssv2217060, nssv2217067, nssv2217066, nssv2217058, nssv2217065, nssv2217061
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)nsv979163
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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