A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460553



Internal ID8487600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53113560..53164998hg38UCSC Ensembl
Innerchr3:53147576..53199014hg19UCSC Ensembl
Innerchr3:53122616..53174054hg18UCSC Ensembl
Innerchr3:53122616..53174054hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3851439
hg1951439
hg1851439
hg1751439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537101
SamplesHGDP00433
Known GenesPRKCD, RFT1
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)nsv460553
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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