A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458316



Internal ID15171695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79748181..79788559hg38UCSC Ensembl
Innerchr18:77508181..77548559hg19UCSC Ensembl
Innerchr18:75609169..75649547hg18UCSC Ensembl
Innerchr18:75609169..75649547hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3840379
hg1940379
hg1840379
hg1740379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535271
SamplesHGDP00954
Known GenesCTDP1
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)nsv458316
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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