A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413394



Internal ID192685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:170023774..170023825hg38UCSC Ensembl
chr4:170944925..170944976hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958417
Samples
Known GenesMFAP3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413394
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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