A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406178



Internal ID185519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40191079..40191130hg38UCSC Ensembl
chr3:40232570..40232621hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932287
Samples
Known GenesEIF1B-AS1, MYRIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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