A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849125



Internal ID22032768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40075179..40075179hg38UCSC Ensembl
chr22:40471183..40471183hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252144
Supporting Variants
Samples
Known GenesTNRC6B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849125
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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