A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721869



Internal ID145535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16463840..16463923hg38UCSC Ensembl
chr19:16574651..16574734hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521056
Supporting Variants
Samples
Known GenesEPS15L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721869
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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