A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457364



Internal ID15170743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6094647..6147798hg38UCSC Ensembl
Innerchr16:6144648..6197799hg19UCSC Ensembl
Innerchr16:6084649..6137800hg18UCSC Ensembl
Innerchr16:6084649..6137800hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3853152
hg1953152
hg1853152
hg1753152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534564
SamplesHGDP00106
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)nsv457364
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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