A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3186684



Internal ID22339322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171292086..171292402hg38UCSC Ensembl
chr1:171261225..171261541hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295700
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3186684
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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