A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546076



Internal ID22415076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38988124..38988124hg38UCSC Ensembl
chr13:39562261..39562261hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384453
SamplesNA19240
Known GenesSTOML3
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)nsv3546076
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