A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457513



Internal ID15170892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:67181417..67282697hg38UCSC Ensembl
Innerchr16:67215320..67316600hg19UCSC Ensembl
Innerchr16:65772821..65874101hg18UCSC Ensembl
Innerchr16:65772821..65874101hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38101281
hg19101281
hg18101281
hg17101281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534686
SamplesHGDP00857
Known GenesE2F4, ELMO3, EXOC3L1, FHOD1, KIAA0895L, LRRC29, MIR328, PLEKHG4, SLC9A5, TMEM208
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)nsv457513
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