A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732806



Internal ID156472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49089625..49130812hg38UCSC Ensembl
chr20:47706162..47747349hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3841188
hg1941188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519794
Supporting Variants
Samples
Known GenesCSE1L, STAU1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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