A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3181137



Internal ID22336421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141942817..141942951hg38UCSC Ensembl
chr3:141661659..141661793hg19UCSC Ensembl
Cytoband3q23
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 Variantsnssv14466961
SamplesHG00733
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)nsv3181137
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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