A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17136019



Internal ID21511833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50344538..50344538hg38UCSC Ensembl
chr22:50782967..50782967hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668102
Supporting Variants
SamplesNA24385
Known GenesPPP6R2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17136019
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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