A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424322



Internal ID203317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19523698..19573237hg38UCSC Ensembl
chr1:19850192..19899731hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3849540
hg1949540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902230
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424322
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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