A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536058



Internal ID15505754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41887220..41907962hg38UCSC Ensembl
Innerchr21:43307329..43328071hg19UCSC Ensembl
Innerchr21:42180398..42201140hg18UCSC Ensembl
Innerchr21:42180398..42201140hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3820743
hg1920743
hg1820743
hg1720743
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459271
Supporting Variants
SamplesHGDP00210
Known GenesC2CD2
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)nssv536058
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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