A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960969



Internal ID41287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168588798..168588838hg38UCSC Ensembl
chr4:169509949..169509989hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542075
Supporting Variants
Samples
Known GenesPALLD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007025


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