A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462242



Internal ID22229868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34528007..34528340hg38UCSC Ensembl
chr20:33115812..33116145hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173034
Supporting Variants
SamplesHG00733
Known GenesDYNLRB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14462242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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