A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457384



Internal ID15170763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7056359..7076731hg38UCSC Ensembl
Innerchr16:7106360..7126732hg19UCSC Ensembl
Innerchr16:7046361..7066733hg18UCSC Ensembl
Innerchr16:7046361..7066733hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3820373
hg1920373
hg1820373
hg1720373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534582
SamplesHGDP00808
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)nsv457384
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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