A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524073



Internal ID22393502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34977736..34977736hg38UCSC Ensembl
chr17:33304755..33304755hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38910
hg19910
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419485, nssv14447297, nssv14378117
SamplesNA19240, HG00733, HG00514
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)nsv3524073
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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