A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535923



Internal ID15506477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13733164..13843493hg38UCSC Ensembl
Innerchr21:15105485..15215814hg19UCSC Ensembl
Innerchr21:14027356..14137685hg18UCSC Ensembl
Innerchr21:14027356..14137685hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38110330
hg19110330
hg18110330
hg17110330
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459093
Supporting Variants
SamplesHGDP00513
Known GenesC21orf15
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)nssv535923
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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