A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040733



Internal ID18783264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42970143..43130210hg38UCSC Ensembl
Innerchr13:43544279..43704346hg19UCSC Ensembl
Innerchr13:42442279..42602346hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38160068
hg19160068
hg18160068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1641n100
Supporting Variantsnssv3714973
Samples
Known GenesDNAJC15, EPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040733
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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