A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921314



Internal ID14976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157300398..157300449hg38UCSC Ensembl
chr2:158156910..158156961hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398204
Supporting Variants
Samples
Known GenesGALNT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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