A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458311



Internal ID15518376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78705183..78731341hg38UCSC Ensembl
Innerchr18:76465183..76491341hg19UCSC Ensembl
Innerchr18:74566171..74592329hg18UCSC Ensembl
Innerchr18:74566171..74592329hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3826159
hg1926159
hg1826159
hg1726159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535267
SamplesHGDP00898
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)nsv458311
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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