A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541420



Internal ID316030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197180632..197180632hg38UCSC Ensembl
chr1:197149762..197149762hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382392
hg192392
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895418
Samples
Known GenesZBTB41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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