A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457319



Internal ID15517384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:966057..997729hg38UCSC Ensembl
Innerchr16:1016057..1047729hg19UCSC Ensembl
Innerchr16:956058..987730hg18UCSC Ensembl
Innerchr16:956058..987730hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3831673
hg1931673
hg1831673
hg1731673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534531
SamplesHGDP01271
Known GenesLMF1, SOX8
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)nsv457319
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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