A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536048



Internal ID15503433
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459249
Supporting Variants
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)nssv536048
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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