A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221913



Internal ID22366146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53328576..53328639hg38UCSC Ensembl
chr13:53902711..53902774hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2278n152
Supporting Variantsnssv14459496, nssv14400686
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221913
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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