A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv987308



Internal ID15934578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197394722..197617305hg38UCSC Ensembl
Innerchr3:197121593..197344176hg19UCSC Ensembl
Innerchr3:198605990..198828573hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38222584
hg19222584
hg18222584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593155
Supporting Variants
Samples
Known GenesBDH1, LOC220729
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv987308
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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