A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186759



Internal ID22339364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122419596..122419922hg38UCSC Ensembl
chr3:122138443..122138769hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6129n152
Supporting Variantsnssv14410212, nssv14466719, nssv14434631
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)nsv3186759
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