A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422592



Internal ID201633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67470320..67477240hg38UCSC Ensembl
chr1:67936003..67942923hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386921
hg196921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906196
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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