A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046164



Internal ID18788695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43168728..43364405hg38UCSC Ensembl
Innerchr13:43742864..43938541hg19UCSC Ensembl
Innerchr13:42640864..42836541hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38195678
hg19195678
hg18195678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714977
Samples
Known GenesENOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046164
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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