A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474530



Internal ID252186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94571195..94582741hg38UCSC Ensembl
chr8:95583423..95594969hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3811547
hg1911547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014573
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474530
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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