A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590209



Internal ID16030932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46976724..47009294hg38UCSC Ensembl
Innerchr3:47018214..47050784hg19UCSC Ensembl
Innerchr3:46993218..47025788hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3832571
hg1932571
hg1832571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962609
Samples
Known GenesCCDC12, NBEAL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590209
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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