A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282117



Internal ID22380448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239914646..239914703hg38UCSC Ensembl
chr2:240854063..240854120hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432684
SamplesHG00514
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)nsv3282117
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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