A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459223



Internal ID15519288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:26697718..26720212hg38UCSC Ensembl
Innerchr21:28070037..28092531hg19UCSC Ensembl
Innerchr21:26991908..27014402hg18UCSC Ensembl
Innerchr21:26991908..27014402hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3822495
hg1922495
hg1822495
hg1722495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536029
Samples1780854459_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)nsv459223
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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