A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419186



Internal ID198326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115038129..115038188hg38UCSC Ensembl
chr1:115580750..115580809hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889264
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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