A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958168



Internal ID22733244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80030026..80030026hg38UCSC Ensembl
chr8:80942261..80942261hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443608
Samples
Known GenesMRPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958168
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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