A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467647



Internal ID15181026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1836040..1887776hg38UCSC Ensembl
Innerchr11:1857270..1909006hg19UCSC Ensembl
Innerchr11:1813846..1865582hg18UCSC Ensembl
Innerchr11:1813846..1865582hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3851737
hg1951737
hg1851737
hg1751737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542866
SamplesHGDP00971
Known GenesLSP1, MIR4298, SYT8, TNNI2
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)nsv467647
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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