A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730179



Internal ID153845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:348660..349067hg38UCSC Ensembl
chr20:329304..329711hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523254
Supporting Variants
Samples
Known GenesNRSN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730179
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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