A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457462



Internal ID15517527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22662534..22766456hg38UCSC Ensembl
Innerchr16:22673855..22777777hg19UCSC Ensembl
Innerchr16:22581356..22685278hg18UCSC Ensembl
Innerchr16:22581356..22685278hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38103923
hg19103923
hg18103923
hg17103923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv349n27
Supporting Variantsnssv534647
SamplesHGDP00544
Known GenesMIR548AA2, MIR548D2
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)nsv457462
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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