A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516379



Internal ID292839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9523520..9524533hg38UCSC Ensembl
chr20:9504167..9505180hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730777
Samples
Known GenesLAMP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516379
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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