A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493099



Internal ID270292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54651805..54675110hg38UCSC Ensembl
chr8:55564365..55587670hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3823306
hg1923306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011385
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493099
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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