A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535207



Internal ID310896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16735336..16735349hg38UCSC Ensembl
chr20:16715981..16715994hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731265
Samples
Known GenesSNRPB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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