A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468804



Internal ID15528869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:97866007..98472908hg38UCSC Ensembl
Innerchr11:97737007..98343637hg19UCSC Ensembl
Innerchr11:97242217..97848847hg18UCSC Ensembl
Innerchr11:97242217..97848847hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38606902
hg19606631
hg18606631
hg17606631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543885
Samples1780862111_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)nsv468804
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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