A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419085



Internal ID198234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169697570..169698052hg38UCSC Ensembl
chr1:169666711..169667193hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892140
Samples
Known GenesSELL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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