A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009801



Internal ID18752332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197449848..197677483hg38UCSC Ensembl
Innerchr3:197176719..197404354hg19UCSC Ensembl
Innerchr3:198661116..198888751hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38227636
hg19227636
hg18227636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5042n100
Supporting Variantsnssv3617014
Samples
Known GenesBDH1, KIAA0226, LOC220729, MIR922
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009801
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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