A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533517



Internal ID22402822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169242648..169242648hg38UCSC Ensembl
chr6:169642743..169642743hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400181
SamplesNA19240
Known GenesTHBS2
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)nsv3533517
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