A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401283



Internal ID180660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223078443..223078458hg38UCSC Ensembl
chr2:223943161..223943176hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926075
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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