A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968240



Internal ID18603468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123760880..123761558hg38UCSC Ensembl
Innerchr5:123096574..123097252hg19UCSC Ensembl
Innerchr5:123124473..123125151hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38679
hg19679
hg18679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375916, nssv2375911, nssv2375912, nssv2375913, nssv2375907, nssv2375909, nssv2375914, nssv2375910, nssv2375915, nssv2375908
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)nsv968240
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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