A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563373



Internal ID336308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211096553..211101685hg38UCSC Ensembl
chr1:211269895..211275027hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg385133
hg195133
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896076
Samples
Known GenesKCNH1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563373
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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