A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730815



Internal ID154481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10161223..10163431hg38UCSC Ensembl
chr20:10141871..10144079hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg382209
hg192209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518942
Supporting Variants
Samples
Known GenesSNAP25-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730815
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002345


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