A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591583



Internal ID16032306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:127628928..127632649hg38UCSC Ensembl
Innerchr3:127347771..127351492hg19UCSC Ensembl
Innerchr3:128830461..128834182hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg383722
hg193722
hg183722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv972944, nssv972943
Samples
Known GenesPODXL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591583
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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