A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536733



Internal ID15512397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229866681..230035049hg38UCSC Ensembl
Innerchr2:230731397..230899765hg19UCSC Ensembl
Innerchr2:230439641..230608009hg18UCSC Ensembl
Innerchr2:230556902..230725270hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38168369
hg19168369
hg18168369
hg17168369
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460118
Supporting Variants
SamplesNINDS_242
Known GenesFBXO36, SLC16A14, TRIP12
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)nssv536733
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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