A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3173034



Internal ID22332118
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 StatusM
Merged Variantsdgv5251n152
Supporting Variantsnssv14407833, nssv14462242
SamplesNA19240, HG00733
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)nsv3173034
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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