A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405652



Internal ID184995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228883857..228883908hg38UCSC Ensembl
chr1:229019604..229019655hg19UCSC Ensembl
Cytoband1q42.13
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 Variantsnssv16898282
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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