A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3281686



Internal ID22380012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234663123..234663211hg38UCSC Ensembl
chr1:234798869..234798957hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14313427, nssv14313425, nssv14313428, nssv14409779, nssv14313429, nssv14313426, nssv14313430
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3281686
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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