A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3292649



Internal ID22388025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34228123..34231420hg38UCSC Ensembl
chr20:32815929..32819226hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383298
hg193298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n152
Supporting Variantsnssv14464632
SamplesHG00733
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)nsv3292649
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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