A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282938



Internal ID22381276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27359345..27359461hg38UCSC Ensembl
chr2:27582212..27582328hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4530n152
Supporting Variantsnssv14461091, nssv14407039
SamplesNA19240, HG00733
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)nsv3282938
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