A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519714



Internal ID296061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76230249..76235760hg38UCSC Ensembl
chr18:73942204..73947715hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg385512
hg195512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719586
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519714
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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