A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543866



Internal ID15507378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:89287330..89367161hg38UCSC Ensembl
Innerchr11:89020498..89100329hg19UCSC Ensembl
Innerchr11:88660146..88739977hg18UCSC Ensembl
Innerchr11:88660146..88739977hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3879832
hg1979832
hg1879832
hg1779832
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468782
Supporting Variants
SamplesHGDP00649
Known GenesNOX4, TYR
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)nssv543866
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