A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476933



Internal ID254532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83447265..83453265hg38UCSC Ensembl
chr8:84359500..84365500hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014092
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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