A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457355



Internal ID8484402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3115424..3251897hg38UCSC Ensembl
Innerchr16:3165425..3301897hg19UCSC Ensembl
Innerchr16:3105426..3241898hg18UCSC Ensembl
Innerchr16:3105426..3241898hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38136474
hg19136473
hg18136473
hg17136473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534556
SamplesHGDP00697
Known GenesMEFV, OR1F1, OR1F2P, ZNF200, ZNF205, ZNF205-AS1, ZNF213
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)nsv457355
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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