A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046993



Internal ID99170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57647460..57647511hg38UCSC Ensembl
chr11:57414933..57414984hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404659
Supporting Variants
Samples
Known GenesYPEL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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