A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516095



Internal ID292561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49125625..49127077hg38UCSC Ensembl
chr20:47742162..47743614hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732813
Samples
Known GenesSTAU1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516095
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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