A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474328



Internal ID251988
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 StatusM
Merged Variants
Supporting Variantsnssv17016952
Samples
Known GenesSNTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474328
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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