A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459236



Internal ID15519301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30264984..30279854hg38UCSC Ensembl
Innerchr21:31637302..31652172hg19UCSC Ensembl
Innerchr21:30559173..30574043hg18UCSC Ensembl
Innerchr21:30559173..30574043hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3814871
hg1914871
hg1814871
hg1714871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536041
Samples1782681092_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)nsv459236
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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