A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462482



Internal ID15522547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149816766..149832947hg38UCSC Ensembl
Innerchr5:149196329..149212510hg19UCSC Ensembl
Innerchr5:149176522..149192703hg18UCSC Ensembl
Innerchr5:149176522..149192703hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3816182
hg1916182
hg1816182
hg1716182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538636
SamplesHGDP00832
Known GenesPPARGC1B
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)nsv462482
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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