A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980684



Internal ID18615884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74928395..74932039hg38UCSC Ensembl
Innerchr5:74224220..74227864hg19UCSC Ensembl
Innerchr5:74259976..74263620hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383645
hg193645
hg183645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2365295, nssv2365294, nssv2365301, nssv2365298, nssv2365296, nssv2365302, nssv2365299, nssv2365297, nssv2365303, nssv2365300
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)nsv980684
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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