A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590201



Internal ID16030924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46769856..46799313hg38UCSC Ensembl
Innerchr3:46811346..46840803hg19UCSC Ensembl
Innerchr3:46786350..46815807hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3829458
hg1929458
hg1829458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8307n54
Supporting Variantsnssv962594, nssv962593
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590201
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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