A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083741



Internal ID20650781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223953274..223968419hg38UCSC Ensembl
chr2:224817991..224833136hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3815146
hg1915146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341818
Supporting Variants
Samples
Known GenesMRPL44
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083741
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