A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139383



Internal ID21452500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39531978..39531978hg38UCSC Ensembl
chr22:39927983..39927983hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668975
Supporting Variants
SamplesHG01596
Known GenesRPS19BP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139383
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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