A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559934



Internal ID332953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41204794..41204820hg38UCSC Ensembl
chr19:41710699..41710725hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723484
Samples
Known GenesCYP2S1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559934
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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