A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462032



Internal ID15522097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28792606..28853009hg38UCSC Ensembl
Innerchr5:28792713..28853116hg19UCSC Ensembl
Innerchr5:28828470..28888873hg18UCSC Ensembl
Innerchr5:28828470..28888873hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3860404
hg1960404
hg1860404
hg1760404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv695n27
Supporting Variantsnssv538321
SamplesHGDP00932
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)nsv462032
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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