A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521996



Internal ID22391413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51134684..51134978hg38UCSC Ensembl
chr14:51601402..51601696hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2621n152
Supporting Variantsnssv14371529, nssv14371535, nssv14371533, nssv14371534, nssv14371530, nssv14371532, nssv14371531
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
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)nsv3521996
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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