A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523955



Internal ID22393384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43312787..43312787hg38UCSC Ensembl
chr6:43280525..43280525hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466671
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523955
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