A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964995



Internal ID18600230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181339968..181342772hg38UCSC Ensembl
Innerchr5:180766969..180769773hg19UCSC Ensembl
Innerchr5:180699575..180702379hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382805
hg192805
hg182805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2704227, nssv2704223, nssv2704220, nssv2704225, nssv2704226, nssv2704221, nssv2704219, nssv2704224, nssv2704222, nssv2704228
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964995
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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