A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462390



Internal ID15522455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113740398..113845592hg38UCSC Ensembl
Innerchr5:113076095..113181289hg19UCSC Ensembl
Innerchr5:113103994..113209188hg18UCSC Ensembl
Innerchr5:113103994..113209188hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38105195
hg19105195
hg18105195
hg17105195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538565
SamplesHGDP00991
Known Genes
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)nsv462390
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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