A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459106



Internal ID15519171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18381189..18411575hg38UCSC Ensembl
Innerchr21:19753506..19783892hg19UCSC Ensembl
Innerchr21:18675377..18705763hg18UCSC Ensembl
Innerchr21:18675377..18705763hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3830387
hg1930387
hg1830387
hg1730387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535931
Samples1787431198_A
Known GenesTMPRSS15
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)nsv459106
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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