A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457567



Internal ID15517632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81046761..81061486hg38UCSC Ensembl
Innerchr16:81080366..81095091hg19UCSC Ensembl
Innerchr16:79637867..79652592hg18UCSC Ensembl
Innerchr16:79637867..79652592hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3814726
hg1914726
hg1814726
hg1714726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv356n27
Supporting Variantsnssv534729
SamplesHGDP01232
Known GenesATMIN, C16orf46
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)nsv457567
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