A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457367



Internal ID15170746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6455963..6706688hg38UCSC Ensembl
Innerchr16:6505964..6756689hg19UCSC Ensembl
Innerchr16:6445965..6696690hg18UCSC Ensembl
Innerchr16:6445965..6696690hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38250726
hg19250726
hg18250726
hg17250726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534567
SamplesHGDP00672
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)nsv457367
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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