A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016952



Internal ID78963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:120581357..120584196hg38UCSC Ensembl
chr8:121593597..121596436hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg382840
hg192840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474328
Supporting Variants
Samples
Known GenesSNTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016952
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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