A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468622



Internal ID15528687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69490392..69529709hg38UCSC Ensembl
Innerchr11:69305160..69344477hg19UCSC Ensembl
Innerchr11:69014341..69053658hg18UCSC Ensembl
Innerchr11:69014341..69053658hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3839318
hg1939318
hg1839318
hg1739318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543723
Samples1780862042_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)nsv468622
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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