A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388954



Internal ID22300421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38856738..38856738hg38UCSC Ensembl
chr13:39430875..39430875hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524486
Supporting Variants
SamplesNA19240
Known GenesFREM2
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)nssv14388954
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