A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975221



Internal ID50867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154309266..154309349hg38UCSC Ensembl
chr5:153688826..153688909hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469615
Supporting Variants
Samples
Known GenesGALNT10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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