A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976854



Internal ID22751789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111372050..111372050hg38UCSC Ensembl
chr11:111242775..111242775hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362347
Samples
Known GenesPOU2AF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976854
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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