A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445918



Internal ID224256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204412441..204415529hg38UCSC Ensembl
chr1:204381569..204384657hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383089
hg193089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894938
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445918
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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