A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406114



Internal ID185455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68341037..68341069hg38UCSC Ensembl
chr1:68806720..68806752hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906229
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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