A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549039



Internal ID22417987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:129780018..129780018hg38UCSC Ensembl
chr10:131578282..131578282hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442513
SamplesHG00733
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)nsv3549039
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