A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400308



Internal ID179690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18301925..18301976hg38UCSC Ensembl
chr2:18483191..18483242hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712568
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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