A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476499



Internal ID254107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67897348..67897588hg38UCSC Ensembl
chr8:68809583..68809823hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011869
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476499
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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