A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403923



Internal ID183282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223408350..223408401hg38UCSC Ensembl
chr2:224273068..224273119hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926108
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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