A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551407



Internal ID22420320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109010957..109010957hg38UCSC Ensembl
chr13:109663305..109663305hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445321
SamplesHG00733
Known GenesMYO16
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)nsv3551407
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