A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181724



Internal ID22336723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39211648..39211968hg38UCSC Ensembl
chr22:39607653..39607973hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455814, nssv14409816, nssv14432866
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)nsv3181724
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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