A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963766



Internal ID18599006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203764166..203774485hg38UCSC Ensembl
Innerchr2:204628889..204639208hg19UCSC Ensembl
Innerchr2:204337134..204347453hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3810320
hg1910320
hg1810320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2220165, nssv2220162, nssv2220161, nssv2220168, nssv2220166, nssv2220160, nssv2220167, nssv2220163, nssv2220169, nssv2220164
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)nsv963766
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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