A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519789



Internal ID22389196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154378944..154379264hg38UCSC Ensembl
chr3:154096733..154097053hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6209n152
Supporting Variantsnssv14308361, nssv14308356, nssv14308359, nssv14308358, nssv14308362, nssv14308357, nssv14308364, nssv14308360, nssv14308363
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGPR149
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3519789
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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