A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403974



Internal ID183333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115102660..115102711hg38UCSC Ensembl
chr3:114821507..114821558hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936463
Samples
Known GenesZBTB20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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