A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459249



Internal ID15519314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36118357..36231355hg38UCSC Ensembl
Innerchr21:37490655..37603653hg19UCSC Ensembl
Innerchr21:36412525..36525523hg18UCSC Ensembl
Innerchr21:36412525..36525523hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38112999
hg19112999
hg18112999
hg17112999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536048
Samples1780862261_A
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
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)nsv459249
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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