A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252090



Internal ID22056700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32591267..32591267hg38UCSC Ensembl
chr22:32987253..32987253hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849077
Samples
Known GenesSYN3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252090
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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