A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041215



Internal ID18783746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43182667..43214467hg38UCSC Ensembl
Innerchr13:43756803..43788603hg19UCSC Ensembl
Innerchr13:42654803..42686603hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3831801
hg1931801
hg1831801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1643n100
Supporting Variantsnssv3523420, nssv3523419
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)nsv1041215
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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