A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521922



Internal ID22391338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78238351..78238351hg38UCSC Ensembl
chr4:79159505..79159505hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424880, nssv14451884
SamplesHG00733, HG00514
Known GenesFRAS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3521922
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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