A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975216



Internal ID50864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154225744..154225810hg38UCSC Ensembl
chr5:153605304..153605370hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473318
Supporting Variants
Samples
Known GenesGALNT10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.38823


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer