A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043201



Internal ID19132420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42796874..42903595hg38UCSC Ensembl
Innerchr13:43371010..43477731hg19UCSC Ensembl
Innerchr13:42269010..42375731hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38106722
hg19106722
hg18106722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1636n100
Supporting Variantsnssv3714968
Samples
Known GenesEPSTI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043201
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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