A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438868



Internal ID217417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136599175..136789831hg38UCSC Ensembl
chr2:137356745..137547401hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38190657
hg19190657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919348
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438868
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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