A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3182232



Internal ID22336984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17122796..17123138hg38UCSC Ensembl
chr20:17103441..17103783hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5187n152
Supporting Variantsnssv14296892, nssv14296891, nssv14296894, nssv14296887, nssv14296893, nssv14296890, nssv14296895, nssv14296888, nssv14296889
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)nsv3182232
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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