A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467712



Internal ID8494759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17372097..17396930hg38UCSC Ensembl
Innerchr11:17393644..17418477hg19UCSC Ensembl
Innerchr11:17350220..17375053hg18UCSC Ensembl
Innerchr11:17350220..17375053hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3824834
hg1924834
hg1824834
hg1724834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542918
SamplesNINDS_66
Known GenesABCC8, KCNJ11, NCR3LG1
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)nsv467712
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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