A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462210



Internal ID8489257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:68275585..68315658hg38UCSC Ensembl
Innerchr5:67571413..67611486hg19UCSC Ensembl
Innerchr5:67607169..67647242hg18UCSC Ensembl
Innerchr5:67607169..67647242hg17UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3840074
hg1940074
hg1840074
hg1740074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538430
SamplesHGDP01230
Known GenesPIK3R1
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)nsv462210
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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