A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591812



Internal ID16032535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133414251..133417747hg38UCSC Ensembl
Innerchr3:133133095..133136591hg19UCSC Ensembl
Innerchr3:134615785..134619281hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg383497
hg193497
hg183497
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8608n54
Supporting Variantsnssv974229, nssv974228
Samples
Known GenesBFSP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591812
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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