A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181942



Internal ID22336831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33747323..33747644hg38UCSC Ensembl
chr20:32335129..32335450hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5247n152
Supporting Variantsnssv14407828
SamplesNA19240
Known GenesZNF341
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)nsv3181942
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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