A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462484



Internal ID15522549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149826067..149852962hg38UCSC Ensembl
Innerchr5:149205630..149232525hg19UCSC Ensembl
Innerchr5:149185823..149212718hg18UCSC Ensembl
Innerchr5:149185823..149212718hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3826896
hg1926896
hg1826896
hg1726896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538637
SamplesNINDS_51
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)nsv462484
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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