A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546546



Internal ID22415532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108215427..108215427hg38UCSC Ensembl
chr13:108867775..108867775hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379416
SamplesNA19240
Known GenesLIG4
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)nsv3546546
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