A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252092



Internal ID22056702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33054401..33054401hg38UCSC Ensembl
chr22:33450387..33450387hg19UCSC 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 Variantsnssv17849079
Samples
Known GenesSYN3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252092
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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