A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964972



Internal ID18253521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175901679..175952946hg38UCSC Ensembl
Innerchr5:175328682..175379949hg19UCSC Ensembl
Innerchr5:175261288..175312555hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3851268
hg1951268
hg1851268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2386655, nssv2386652, nssv2386657, nssv2386649, nssv2386656, nssv2386653, nssv2386650, nssv2386648, nssv2386651, nssv2386654
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)nsv964972
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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