A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433556



Internal ID212268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32134157..32142156hg38UCSC Ensembl
chr1:32599758..32607757hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901374
Samples
Known GenesKPNA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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