A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534753



Internal ID15163935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84579799..84639929hg38UCSC Ensembl
Innerchr16:84613405..84673535hg19UCSC Ensembl
Innerchr16:83170906..83231036hg18UCSC Ensembl
Innerchr16:83170906..83231036hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3860131
hg1960131
hg1860131
hg1760131
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457605
Supporting Variants
SamplesHGDP01273
Known GenesCOTL1
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)nssv534753
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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