A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590368



Internal ID16031091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57483370..57576753hg38UCSC Ensembl
Innerchr3:57469097..57562480hg19UCSC Ensembl
Innerchr3:57444137..57537520hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3893384
hg1993384
hg1893384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963367
Samples
Known GenesARF4, DNAH12, PDE12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590368
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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