A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478199



Internal ID255762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43033237..43033507hg38UCSC Ensembl
chr8:42888380..42888650hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009843
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478199
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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