A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448374



Internal ID226652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236932182..236938364hg38UCSC Ensembl
chr1:237095482..237101664hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386183
hg196183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898776
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448374
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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