A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282288



Internal ID22380621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113769247..113774127hg38UCSC Ensembl
chr2:114526824..114531704hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg384881
hg194881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4744n152
Supporting Variantsnssv14408290
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3282288
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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