A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533441



Internal ID15509623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83515072..83583792hg38UCSC Ensembl
Innerchr13:84089207..84157927hg19UCSC Ensembl
Innerchr13:82987208..83055928hg18UCSC Ensembl
Innerchr13:82987208..83055928hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3868721
hg1968721
hg1868721
hg1768721
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456018
Supporting Variants
SamplesHGDP01050
Known Genes
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)nssv533441
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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