A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468909



Internal ID15182288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134288851..134340635hg38UCSC Ensembl
Innerchr11:134158745..134210529hg19UCSC Ensembl
Innerchr11:133663955..133715739hg18UCSC Ensembl
Innerchr11:133663955..133715739hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3851785
hg1951785
hg1851785
hg1751785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv171n27
Supporting Variantsnssv543958
SamplesHGDP00775
Known GenesGLB1L2, GLB1L3
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)nsv468909
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