A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533333



Internal ID15501907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42901055..42943600hg38UCSC Ensembl
Innerchr13:43475191..43517736hg19UCSC Ensembl
Innerchr13:42373191..42415736hg18UCSC Ensembl
Innerchr13:42373191..42415736hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3842546
hg1942546
hg1842546
hg1742546
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455872
Supporting Variants
Samples1780846320_A
Known GenesEPSTI1
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)nssv533333
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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