A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457353



Internal ID15170732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2255538..2365929hg38UCSC Ensembl
Innerchr16:2305539..2415930hg19UCSC Ensembl
Innerchr16:2245540..2355931hg18UCSC Ensembl
Innerchr16:2245540..2355931hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38110392
hg19110392
hg18110392
hg17110392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534554
Samples1782681114_A
Known GenesABCA17P, ABCA3, MIR3677, MIR4717, MIR940, RNPS1
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)nsv457353
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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