A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176445



Internal ID15876636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49550485..49611068hg38UCSC Ensembl
Innerchr13:50124621..50185204hg19UCSC Ensembl
Innerchr13:49022622..49083205hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3860584
hg1960584
hg1860584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561617
Supporting Variants
SamplesHGDP00873
Known GenesRCBTB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176445
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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