A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421923



Internal ID200980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68813018..68818930hg38UCSC Ensembl
chr1:69278701..69284613hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg385913
hg195913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904017
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421923
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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