A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049071



Internal ID18791602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42884423..43291245hg38UCSC Ensembl
Innerchr13:43458559..43865381hg19UCSC Ensembl
Innerchr13:42356559..42763381hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38406823
hg19406823
hg18406823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1637n100
Supporting Variantsnssv3714970
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)nsv1049071
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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