A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3184389



Internal ID22338130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:10451447..10451770hg38UCSC Ensembl
chr10:10493410..10493733hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv797n152
Supporting Variantsnssv14459905, nssv14437012
SamplesHG00733, 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)nsv3184389
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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