A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964834



Internal ID18600070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32601038..32603822hg38UCSC Ensembl
Innerchr5:32601144..32603928hg19UCSC Ensembl
Innerchr5:32636901..32639685hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382785
hg192785
hg182785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2352695, nssv2352693, nssv2352699, nssv2352694, nssv2352691, nssv2352697, nssv2352696, nssv2352698, nssv2352700, nssv2352692
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSUB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964834
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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