A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460112



Internal ID15520177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228501467..228566205hg38UCSC Ensembl
Innerchr2:229366183..229430921hg19UCSC Ensembl
Innerchr2:229074427..229139165hg18UCSC Ensembl
Innerchr2:229191688..229256426hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3864739
hg1964739
hg1864739
hg1764739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv492n27
Supporting Variantsnssv536728
SamplesHGDP00464
Known Genes
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)nsv460112
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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