A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16278176



Internal ID20487394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48542151..48542330hg38UCSC Ensembl
chr22:48937963..48938142hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4745774
Supporting Variants
Samples
Known GenesFAM19A5, LOC284933
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16278176
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