A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713780



Internal ID137446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57848854..57848854hg38UCSC Ensembl
chr17:55926215..55926215hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421087
Supporting Variants
Samples
Known GenesMRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713780
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.121358


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