A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3176038



Internal ID22333677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21484467..21486504hg38UCSC Ensembl
chr14:21952626..21954663hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382038
hg192038
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14453925, nssv14403487, nssv14429076
SamplesNA19240, HG00733, HG00514
Known GenesTOX4
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)nsv3176038
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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