A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980654



Internal ID18615854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:66571329..66573166hg38UCSC Ensembl
Innerchr5:65867157..65868994hg19UCSC Ensembl
Innerchr5:65902913..65904750hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381838
hg191838
hg181838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2360207, nssv2360202, nssv2360200, nssv2360208, nssv2360201, nssv2360204, nssv2360203, nssv2360206, nssv2360205, nssv2360199
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)nsv980654
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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