A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204621



Internal ID20771661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36680023..36680692hg38UCSC Ensembl
chr22:37076068..37076737hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554688
Supporting Variants
Samples
Known GenesCACNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204621
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03504


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