A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898801



Internal ID22673922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46674609..46676923hg38UCSC Ensembl
chr3:46716099..46718413hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382315
hg192315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409951
Samples
Known GenesALS2CL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898801
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