A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518688



Internal ID295061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21305489..21308111hg38UCSC Ensembl
chr20:21286127..21288749hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382623
hg192623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731529
Samples
Known GenesXRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518688
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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