A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457382



Internal ID15170761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7000339..7032044hg38UCSC Ensembl
Innerchr16:7050340..7082045hg19UCSC Ensembl
Innerchr16:6990341..7022046hg18UCSC Ensembl
Innerchr16:6990341..7022046hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3831706
hg1931706
hg1831706
hg1731706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534580
SamplesHGDP00264
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)nsv457382
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer