A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190276



Internal ID22341194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17122783..17123122hg38UCSC Ensembl
chr20:17103428..17103767hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5187n152
Supporting Variantsnssv14407643, nssv14457508, nssv14433219
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3190276
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer