A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978325



Internal ID52934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180797844..180797894hg38UCSC Ensembl
chr5:180224844..180224894hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542261
Supporting Variants
Samples
Known GenesMGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.151577


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