A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998081



Internal ID18810931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197344088..197627105hg38UCSC Ensembl
Innerchr3:197070959..197353976hg19UCSC Ensembl
Innerchr3:198555356..198838373hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38283018
hg19283018
hg18283018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5041n100
Supporting Variantsnssv3617011
Samples
Known GenesBDH1, LOC220729
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998081
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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