A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709454



Internal ID133120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57218723..57219032hg38UCSC Ensembl
chr16:57252635..57252944hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519309
Supporting Variants
Samples
Known GenesRSPRY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709454
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.158601


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