A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540349



Internal ID22409493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13588980..13588980hg38UCSC Ensembl
chr1:13915475..13915475hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14380945
SamplesNA19240
Known GenesPDPN
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)nsv3540349
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