A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084862



Internal ID20651902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24190914..24193440hg38UCSC Ensembl
chr2:24413783..24416309hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382527
hg192527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350235
Supporting Variants
Samples
Known GenesFAM228A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084862
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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