A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3282022



Internal ID22380352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207609758..207612059hg38UCSC Ensembl
chr2:208474482..208476783hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4965n152
Supporting Variantsnssv14467571, nssv14433824, nssv14406513
SamplesNA19240, HG00733, HG00514
Known GenesMETTL21A
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)nsv3282022
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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