A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17122387



Internal ID21419490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45166718..45166718hg38UCSC Ensembl
chr22:45562599..45562599hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5666756
Supporting Variants
SamplesHG00731
Known GenesNUP50
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17122387
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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