A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458283



Internal ID15518348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71183498..71237918hg38UCSC Ensembl
Innerchr18:68850734..68905154hg19UCSC Ensembl
Innerchr18:67001714..67056134hg18UCSC Ensembl
Innerchr18:67001714..67056134hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3854421
hg1954421
hg1854421
hg1754421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv391n27
Supporting Variantsnssv535246
Samples1780862416_A
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)nsv458283
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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