A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591811



Internal ID16032534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133414251..133415517hg38UCSC Ensembl
Innerchr3:133133095..133134361hg19UCSC Ensembl
Innerchr3:134615785..134617051hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381267
hg191267
hg181267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv974227, nssv974226
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591811
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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