A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050409



Internal ID101497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117244635..117244635hg38UCSC Ensembl
chr11:117115351..117115351hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431011
Supporting Variants
Samples
Known GenesRNF214
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050409
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01716


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