A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521092



Internal ID22390504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59078586..59078887hg38UCSC Ensembl
chr14:59545304..59545605hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2629n152
Supporting Variantsnssv14369527, nssv14369526
SamplesHG00731, HG00733
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)nsv3521092
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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