A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591808



Internal ID16032531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133413980..133417747hg38UCSC Ensembl
Innerchr3:133132824..133136591hg19UCSC Ensembl
Innerchr3:134615514..134619281hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg383768
hg193768
hg183768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8606n54
Supporting Variantsnssv974210
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591808
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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