A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438035



Internal ID216607
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 StatusM
Merged Variants
Supporting Variantsnssv16919318
Samples
Known GenesMGAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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