A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421014



Internal ID200103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72984843..72992945hg38UCSC Ensembl
chr1:73450526..73458628hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388103
hg198103
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904624
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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