A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3280754



Internal ID22379069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239930783..239930955hg38UCSC Ensembl
chr2:240870200..240870372hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298082, nssv14408784, nssv14298083
SamplesNA19238, NA19240
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)nsv3280754
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