A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552337



Internal ID22421232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99427145..99427145hg38UCSC Ensembl
chr13:100079399..100079399hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392000, nssv14444909, nssv14417833
SamplesNA19240, HG00733, HG00514
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)nsv3552337
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer