A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408429



Internal ID22466299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43961372..43961583hg38UCSC Ensembl
chr21:45381253..45381464hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957689
Supporting Variants
Samples
Known GenesAGPAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408429
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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