A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457369



Internal ID15170748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6587112..6633074hg38UCSC Ensembl
Innerchr16:6637113..6683075hg19UCSC Ensembl
Innerchr16:6577114..6623076hg18UCSC Ensembl
Innerchr16:6577114..6623076hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3845963
hg1945963
hg1845963
hg1745963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv338n27
Supporting Variantsnssv534569
SamplesHGDP00552
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)nsv457369
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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