A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462485



Internal ID15175864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149851167..149881249hg38UCSC Ensembl
Innerchr5:149230730..149260812hg19UCSC Ensembl
Innerchr5:149210923..149241005hg18UCSC Ensembl
Innerchr5:149210923..149241005hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3830083
hg1930083
hg1830083
hg1730083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv727n27
Supporting Variantsnssv538638
SamplesHGDP00161
Known GenesPDE6A, PPARGC1B
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)nsv462485
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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