A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459298



Internal ID15172677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44771532..44858053hg38UCSC Ensembl
Innerchr21:46191447..46277968hg19UCSC Ensembl
Innerchr21:45015875..45102396hg18UCSC Ensembl
Innerchr21:45015875..45102396hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3886522
hg1986522
hg1886522
hg1786522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536074
Samples1780862444_A
Known GenesPTTG1IP, SUMO3, UBE2G2
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)nsv459298
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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