A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282358



Internal ID22380692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165927112..165927164hg38UCSC Ensembl
chr2:166783622..166783674hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14408335
SamplesNA19240
Known GenesTTC21B
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)nsv3282358
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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