A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17484863



Internal ID22542773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50754947..50766499hg38UCSC Ensembl
chr22:51193375..51204927hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811553
hg1911553
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886508
Supporting Variants
Samples
Known GenesRPL23AP82
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17484863
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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