A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406592



Internal ID185931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83376862..83376913hg38UCSC Ensembl
chr5:82672681..82672732hg19UCSC Ensembl
Cytoband5q14.2
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 Variantsnssv16967092
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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