A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590249



Internal ID16030972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49990952..50115923hg38UCSC Ensembl
Innerchr3:50028385..50153356hg19UCSC Ensembl
Innerchr3:50003389..50128360hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38124972
hg19124972
hg18124972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963016
Samples
Known GenesRBM5, RBM5-AS1, RBM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590249
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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