A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536072



Internal ID15160404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43756077..43771258hg38UCSC Ensembl
Innerchr21:45175958..45191139hg19UCSC Ensembl
Innerchr21:44000386..44015567hg18UCSC Ensembl
Innerchr21:44000386..44015567hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3815182
hg1915182
hg1815182
hg1715182
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459291
Supporting Variants
SamplesHGDP00607
Known GenesPDXK
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)nssv536072
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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