A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514216



Internal ID290716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57772423..57780229hg38UCSC Ensembl
chr18:55439655..55447461hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg387807
hg197807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718491
Samples
Known GenesATP8B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514216
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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