A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3179657



Internal ID22335675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146412872..146413847hg38UCSC Ensembl
chr5:145792435..145793410hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14410895
SamplesNA19240
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)nsv3179657
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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