A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052436



Internal ID18794967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41528484..41916430hg38UCSC Ensembl
Innerchr13:42102620..42490566hg19UCSC Ensembl
Innerchr13:41000620..41388566hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38387947
hg19387947
hg18387947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1634n100
Supporting Variantsnssv3714966
Samples
Known GenesMIR5006, VWA8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052436
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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