A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457318



Internal ID15170697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45794467..45825358hg38UCSC Ensembl
Innerchr2:46021606..46052497hg19UCSC Ensembl
Innerchr2:45875110..45906001hg18UCSC Ensembl
Innerchr2:45933257..45964148hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3830892
hg1930892
hg1830892
hg1730892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534530
SamplesHGDP00756
Known GenesPRKCE
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)nsv457318
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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