A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536085



Internal ID15506476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46116632..46129699hg38UCSC Ensembl
Innerchr21:47536546..47549613hg19UCSC Ensembl
Innerchr21:46360974..46374041hg18UCSC Ensembl
Innerchr21:46360974..46374041hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813068
hg1913068
hg1813068
hg1713068
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459311
Supporting Variants
SamplesHGDP00512
Known GenesCOL6A2
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)nssv536085
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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