A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3171718



Internal ID22331436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4346658..4346969hg38UCSC Ensembl
chr9:4346658..4346969hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9463n152
Supporting Variantsnssv14343800, nssv14343799, nssv14343802, nssv14343804, nssv14343805, nssv14343803, nssv14343801, nssv14343807, nssv14343806
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)nsv3171718
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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