A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483448



Internal ID260883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123860111..123866222hg38UCSC Ensembl
chr8:124872351..124878462hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg386112
hg196112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017032
Samples
Known GenesFER1L6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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