A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533352



Internal ID15161687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24114991..24317722hg38UCSC Ensembl
Innerchr2:24337861..24540591hg19UCSC Ensembl
Innerchr2:24191365..24394095hg18UCSC Ensembl
Innerchr2:24249512..24452242hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38202732
hg19202731
hg18202731
hg17202731
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455897
Supporting Variants
SamplesHGDP00811
Known GenesFAM228A, FAM228B, ITSN2, PFN4
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)nssv533352
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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