A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534669



Internal ID15155971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:52434324..52488805hg38UCSC Ensembl
Innerchr16:52468236..52522717hg19UCSC Ensembl
Innerchr16:51025737..51080218hg18UCSC Ensembl
Innerchr16:51025737..51080218hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3854482
hg1954482
hg1854482
hg1754482
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457488
Supporting Variants
Samples1780854481_A
Known GenesTOX3
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)nssv534669
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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