A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398472



Internal ID177868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92005018..92005069hg38UCSC Ensembl
chr1:92470575..92470626hg19UCSC Ensembl
Cytoband1p22.1
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 Variantsnssv16906444
Samples
Known GenesBRDT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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