A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983839



Internal ID18619031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69083042..69085842hg38UCSC Ensembl
Innerchr14:69549759..69552559hg19UCSC Ensembl
Innerchr14:68619512..68622312hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382801
hg192801
hg182801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1992065, nssv1992064, nssv1992071, nssv1992067, nssv1992070, nssv1992073, nssv1992072, nssv1992066, nssv1992069, nssv1992068
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDCAF5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983839
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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