A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970540



Internal ID22745475
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 StatusM
Merged Variants
Supporting Variantsnssv17399598
Samples
Known GenesNUP50
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970540
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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