A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3297934



Internal ID22388743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34228122..34231418hg38UCSC Ensembl
chr20:32815928..32819224hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383297
hg193297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5249n152
Supporting Variantsnssv14407830, nssv14433537
SamplesNA19240, HG00514
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)nsv3297934
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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