A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940854



Internal ID27938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149678750..149678801hg38UCSC Ensembl
chr3:149396537..149396588hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404610
Supporting Variants
Samples
Known GenesWWTR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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