A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975219



Internal ID50866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154289526..154291247hg38UCSC Ensembl
chr5:153669086..153670807hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381722
hg191722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457023
Supporting Variants
Samples
Known GenesGALNT10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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