A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394875



Internal ID174301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102980998..102981049hg38UCSC Ensembl
chr2:103597456..103597507hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917064
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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