A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558562



Internal ID331621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54185314..54185354hg38UCSC Ensembl
chr1:54650987..54651027hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905994
Samples
Known GenesCYB5RL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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