A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458057



Internal ID15518122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:40335688..40361542hg38UCSC Ensembl
Innerchr18:37915652..37941506hg19UCSC Ensembl
Innerchr18:36169650..36195504hg18UCSC Ensembl
Innerchr18:36169650..36195504hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3825855
hg1925855
hg1825855
hg1725855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535109
SamplesHGDP00886
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)nsv458057
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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