A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523019



Internal ID21847378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134262378..134262524hg38UCSC Ensembl
chr2:135019949..135020095hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5986413
Supporting Variants
Samples
Known GenesMGAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523019
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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