A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3187834



Internal ID22339935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33556219..33556547hg38UCSC Ensembl
chr2:33781286..33781614hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4544n152
Supporting Variantsnssv14466127, nssv14407055
SamplesNA19240, HG00733
Known GenesRASGRP3
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)nsv3187834
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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