A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536024



Internal ID15506565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:25796332..25859887hg38UCSC Ensembl
Innerchr21:27168643..27232198hg19UCSC Ensembl
Innerchr21:26090514..26154069hg18UCSC Ensembl
Innerchr21:26090514..26154069hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3863556
hg1963556
hg1863556
hg1763556
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv459215
Supporting Variants
SamplesHGDP00525
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)nssv536024
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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