A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003716



Internal ID18746247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197271375..197659420hg38UCSC Ensembl
Innerchr3:196998246..197386291hg19UCSC Ensembl
Innerchr3:198482643..198870688hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38388046
hg19388046
hg18388046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5038n100
Supporting Variantsnssv3737881
Samples
Known GenesBDH1, DLG1, DLG1-AS1, LOC220729, MIR4797
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003716
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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