A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590242



Internal ID16030965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48392157..48518906hg38UCSC Ensembl
Innerchr3:48433635..48556339hg19UCSC Ensembl
Innerchr3:48408639..48531343hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38126750
hg19122705
hg18122705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963009
Samples
Known GenesATRIP, CCDC51, FBXW12, PFKFB4, PLXNB1, SHISA5, TMA7, TREX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590242
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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