A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980686



Internal ID18615886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76376057..76379107hg38UCSC Ensembl
Innerchr5:75671882..75674932hg19UCSC Ensembl
Innerchr5:75707638..75710688hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383051
hg193051
hg183051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2364862, nssv2364860, nssv2364858, nssv2364856, nssv2364855, nssv2364857, nssv2366715, nssv2364859, nssv2364861, nssv2366714
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)nsv980686
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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