A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967054



Internal ID18602283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122577688..122579048hg38UCSC Ensembl
Innerchr3:122296535..122297895hg19UCSC Ensembl
Innerchr3:123779225..123780585hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381361
hg191361
hg181361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2295564, nssv2295555, nssv2295563, nssv2295561, nssv2295557, nssv2295562, nssv2295560, nssv2295558, nssv2295556, nssv2295559
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPARP15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967054
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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