A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524645



Internal ID22394080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81858347..81858661hg38UCSC Ensembl
chr3:81907498..81907812hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6045n152
Supporting Variantsnssv14307084, nssv14307083, nssv14307086, nssv14307087, nssv14307090, nssv14307089, nssv14307088, nssv14307085, nssv14307091
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)nsv3524645
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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