A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189887



Internal ID22341009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179693333..179693467hg38UCSC Ensembl
chr5:179120334..179120468hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436170
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a Alu.Moasic mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189887
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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