A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533512



Internal ID15506742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32529919..32671988hg38UCSC Ensembl
Innerchr2:32754986..32897055hg19UCSC Ensembl
Innerchr2:32608490..32750559hg18UCSC Ensembl
Innerchr2:32666637..32808706hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38142070
hg19142070
hg18142070
hg17142070
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456108
Supporting Variants
SamplesHGDP00548
Known GenesBIRC6, MIR4765, MIR558, TTC27
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)nssv533512
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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