A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457379



Internal ID15170758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6793830..6877241hg38UCSC Ensembl
Innerchr16:6843831..6927242hg19UCSC Ensembl
Innerchr16:6783832..6867243hg18UCSC Ensembl
Innerchr16:6783832..6867243hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3883412
hg1983412
hg1883412
hg1783412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv339n27
Supporting Variantsnssv534578
SamplesHGDP01276
Known GenesRBFOX1
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)nsv457379
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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