A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963241



Internal ID18598482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64662047..64666852hg38UCSC Ensembl
Innerchr2:64889181..64893986hg19UCSC Ensembl
Innerchr2:64742685..64747490hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384806
hg194806
hg184806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173031, nssv2173030, nssv2173028, nssv2173800, nssv2173801, nssv2173029, nssv2173033, nssv2173799, nssv2173802, nssv2173032
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)nsv963241
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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