A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548705



Internal ID322433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92034788..92034831hg38UCSC Ensembl
chr8:93047016..93047059hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015609
Samples
Known GenesRUNX1T1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548705
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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