A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179207



Internal ID22335424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17409226..17410075hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38850
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463197
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3179207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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