A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16961017



Internal ID41320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173145193..173145244hg38UCSC Ensembl
chr4:174066344..174066395hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409372
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16961017
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