A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590213



Internal ID16030936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449222..47449855hg38UCSC Ensembl
Innerchr3:47490712..47491345hg19UCSC Ensembl
Innerchr3:47465716..47466349hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38634
hg19634
hg18634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8309n54
Supporting Variantsnssv962612
Samples
Known GenesSCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590213
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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