A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457355



Internal ID6039101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3165425..3301897hg19UCSC Ensembl
Innerchr16:3105426..3241898hg18UCSC Ensembl
Innerchr16:3105426..3241898hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv534556
SamplesHGDP00697
Known GenesMEFV, MGC3771, OR1F1, OR1F2P, ZNF200, ZNF205, ZNF213
MethodSNP_genotyping_analysis
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 Provided
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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