A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013781



Internal ID18756313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197479984..197671333hg38UCSC Ensembl
Innerchr3:197206855..197398204hg19UCSC Ensembl
Innerchr3:198691252..198882601hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38191350
hg19191350
hg18191350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5042n100
Supporting Variantsnssv3617015
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)nsv1013781
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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