A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486984



Internal ID264334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129621784..129621861hg38UCSC Ensembl
chr8:130634030..130634107hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018564
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486984
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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