A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468904



Internal ID15528969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134288851..134333644hg38UCSC Ensembl
Innerchr11:134158745..134203538hg19UCSC Ensembl
Innerchr11:133663955..133708748hg18UCSC Ensembl
Innerchr11:133663955..133708748hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3844794
hg1944794
hg1844794
hg1744794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv170n27
Supporting Variantsnssv543953
SamplesHGDP01184
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)nsv468904
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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