A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285839



Internal ID20495057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222932643..222932960hg38UCSC Ensembl
chr2:223797361..223797678hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4749956
Supporting Variants
Samples
Known GenesACSL3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285839
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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