A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451884



Internal ID22246867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78238351..78238351hg38UCSC Ensembl
chr4:79159505..79159505hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521922
Supporting Variants
SamplesHG00733
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)nssv14451884
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer