A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591427



Internal ID16378836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123448885..123452433hg38UCSC Ensembl
Innerchr3:123167732..123171280hg19UCSC Ensembl
Innerchr3:124650422..124653970hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg383549
hg193549
hg183549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8530n54
Supporting Variantsnssv971807
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591427
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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