A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965049



Internal ID18600284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181408007..181409801hg38UCSC Ensembl
Innerchr5:180835008..180836802hg19UCSC Ensembl
Innerchr5:180767614..180769408hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381795
hg191795
hg181795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2704325, nssv2704327, nssv2704322, nssv2704324, nssv2704320, nssv2704321, nssv2704323, nssv2704326, nssv2704328, nssv2704329
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965049
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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