A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450785



Internal ID228981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:199751430..199751615hg38UCSC Ensembl
chr1:199720558..199720743hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894838
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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