A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468775



Internal ID15528840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:86742373..86769674hg38UCSC Ensembl
Innerchr11:86453415..86480716hg19UCSC Ensembl
Innerchr11:86131063..86158364hg18UCSC Ensembl
Innerchr11:86131063..86158364hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3827302
hg1927302
hg1827302
hg1727302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543862
Samples1780862469_A
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)nsv468775
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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