A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543952



Internal ID15158366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134288851..134327741hg38UCSC Ensembl
Innerchr11:134158745..134197635hg19UCSC Ensembl
Innerchr11:133663955..133702845hg18UCSC Ensembl
Innerchr11:133663955..133702845hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3838891
hg1938891
hg1838891
hg1738891
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468903
Supporting Variants
SamplesHGDP00031
Known GenesGLB1L3
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)nssv543952
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