A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3295453



Internal ID22388420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34200949..34201025hg38UCSC Ensembl
chr20:32788755..32788831hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5248n152
Supporting Variantsnssv14407829
SamplesNA19240
Known Genes
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)nsv3295453
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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