A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475752



Internal ID253386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113298660..113312376hg38UCSC Ensembl
chr8:114310889..114324605hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3813717
hg1913717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017878
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475752
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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