A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393472



Internal ID22451342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207613440..207621801hg38UCSC Ensembl
chr2:208478164..208486525hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388362
hg198362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906751
Supporting Variants
Samples
Known GenesMETTL21A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393472
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