A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591807



Internal ID16032530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133413980..133416677hg38UCSC Ensembl
Innerchr3:133132824..133135521hg19UCSC Ensembl
Innerchr3:134615514..134618211hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382698
hg192698
hg182698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8605n54
Supporting Variantsnssv974208, nssv974209
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591807
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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