A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549336



Internal ID22418284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31689270..31689270hg38UCSC Ensembl
chr20:30277073..30277073hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394360, nssv14449439, nssv14421971
SamplesNA19240, HG00733, HG00514
Known GenesBCL2L1
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)nsv3549336
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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