A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554994



Internal ID22423843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109489294..109489294hg38UCSC Ensembl
chr13:110141641..110141641hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14385665, nssv14417896, nssv14445334
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)nsv3554994
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