A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457443



Internal ID15517508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20472407..20518912hg38UCSC Ensembl
Innerchr16:20483729..20530234hg19UCSC Ensembl
Innerchr16:20391230..20437735hg18UCSC Ensembl
Innerchr16:20391230..20437735hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3846506
hg1946506
hg1846506
hg1746506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv346n27
Supporting Variantsnssv534634
SamplesHGDP00462
Known GenesACSM2A
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)nsv457443
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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