A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452768



Internal ID230912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225740711..225742210hg38UCSC Ensembl
chr1:225928413..225929912hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897414
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452768
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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