A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968980



Internal ID18604208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115512465..115513564hg38UCSC Ensembl
Innerchr5:114848162..114849261hg19UCSC Ensembl
Innerchr5:114876061..114877160hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg381100
hg191100
hg181100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2373922, nssv2373915, nssv2373920, nssv2373919, nssv2373921, nssv2373923, nssv2373916, nssv2373917, nssv2373918, nssv2373924
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)nsv968980
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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