A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050731



Internal ID19139950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24053479..24269206hg38UCSC Ensembl
Innerchr13:24627618..24843344hg19UCSC Ensembl
Innerchr13:23525618..23741344hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38215728
hg19215727
hg18215727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714950
Samples
Known GenesMIR2276, SPATA13, SPATA13-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050731
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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