A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533514



Internal ID15509257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:107817476..107830637hg38UCSC Ensembl
Innerchr13:108469824..108482985hg19UCSC Ensembl
Innerchr13:107267825..107280986hg18UCSC Ensembl
Innerchr13:107267825..107280986hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3813162
hg1913162
hg1813162
hg1713162
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456110
Supporting Variants
SamplesHGDP00964
Known GenesFAM155A
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)nssv533514
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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