A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053568



Internal ID103559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118025594..118025645hg38UCSC Ensembl
chr11:117896309..117896360hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415405
Supporting Variants
Samples
Known GenesTMPRSS4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053568
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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