A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213641



Internal ID22360527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114760901..114766500hg38UCSC Ensembl
chr12:115198706..115204305hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2004n152
Supporting Variantsnssv14398240
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213641
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