A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545959



Internal ID319958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75167893..75167893hg38UCSC Ensembl
chr8:76080128..76080128hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013120
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545959
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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