A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517044



Internal ID293477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58492804..58492857hg38UCSC Ensembl
chr20:57067860..57067913hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733340
Samples
Known GenesAPCDD1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517044
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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