A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16919318



Internal ID13655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134372757..134372851hg38UCSC Ensembl
chr2:135130328..135130422hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5438035
Supporting Variants
Samples
Known GenesMGAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16919318
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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