A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551505



Internal ID22420416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83158727..83158727hg38UCSC Ensembl
chr9:85773642..85773642hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403022, nssv14428798, nssv14464083
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551505
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