A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468630



Internal ID15528695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:70230432..70248052hg38UCSC Ensembl
Innerchr11:70076538..70094158hg19UCSC Ensembl
Innerchr11:69754186..69771806hg18UCSC Ensembl
Innerchr11:69754186..69771806hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3817621
hg1917621
hg1817621
hg1717621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv157n27
Supporting Variantsnssv543729
SamplesHGDP00262
Known Genes
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)nsv468630
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