A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458292



Internal ID15518357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:73113514..73229094hg38UCSC Ensembl
Innerchr18:70780749..70896329hg19UCSC Ensembl
Innerchr18:68931729..69047309hg18UCSC Ensembl
Innerchr18:68931729..69047309hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38115581
hg19115581
hg18115581
hg17115581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535255
SamplesHGDP00218
Known GenesLOC400655
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)nsv458292
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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