A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896684



Internal ID171931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215646380..215646380hg38UCSC Ensembl
chr1:215819722..215819722hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406741
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.057512


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