A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517372



Internal ID293798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19248673..19251476hg38UCSC Ensembl
chr20:19229317..19232120hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382804
hg192804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731415
Samples
Known GenesLOC100130264, SLC24A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517372
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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