A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457376



Internal ID15170755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6728995..6852147hg38UCSC Ensembl
Innerchr16:6778996..6902148hg19UCSC Ensembl
Innerchr16:6718997..6842149hg18UCSC Ensembl
Innerchr16:6718997..6842149hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38123153
hg19123153
hg18123153
hg17123153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534575
SamplesHGDP00771
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)nsv457376
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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