A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3617011



Internal ID18568606
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 StatusS
Merged Variantsnsv998081
Supporting Variants
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)nssv3617011
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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