A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220686



Internal ID22365314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30838521..30839964hg38UCSC Ensembl
chr13:31412658..31414101hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381444
hg191444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2210n152
Supporting Variantsnssv14426386
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220686
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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