A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459289



Internal ID15172668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43505454..43644719hg38UCSC Ensembl
Innerchr21:44925334..45064600hg19UCSC Ensembl
Innerchr21:43749762..43889028hg18UCSC Ensembl
Innerchr21:43749762..43889028hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38139266
hg19139267
hg18139267
hg17139267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536071
SamplesHGDP01270
Known GenesHSF2BP, MIR6070
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)nsv459289
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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