A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591803



Internal ID16032526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133413620..133418117hg38UCSC Ensembl
Innerchr3:133132464..133136961hg19UCSC Ensembl
Innerchr3:134615154..134619651hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384498
hg194498
hg184498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8606n54
Supporting Variantsnssv974194, nssv974193
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591803
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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