A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283201



Internal ID22381541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56789085..56789311hg38UCSC Ensembl
chr12:57182869..57183095hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1858n152
Supporting Variantsnssv14395510
SamplesNA19240
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)nsv3283201
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