A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533343



Internal ID15508618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49550485..49611068hg38UCSC Ensembl
Innerchr13:50124621..50185204hg19UCSC Ensembl
Innerchr13:49022622..49083205hg18UCSC Ensembl
Innerchr13:49022622..49083205hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3860584
hg1960584
hg1860584
hg1760584
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455883
Supporting Variants
SamplesHGDP00873
Known GenesRCBTB1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv533343
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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