A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3714969



Internal ID18666564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42834264..43351384hg38UCSC Ensembl
Innerchr13:43408400..43925520hg19UCSC Ensembl
Innerchr13:42306400..42823520hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38517121
hg19517121
hg18517121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048787
Supporting Variants
Samples
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3714969
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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