A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519974



Internal ID22389382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103899617..103899941hg38UCSC Ensembl
chr12:104293395..104293719hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1977n152
Supporting Variantsnssv14365570, nssv14365564, nssv14365565, nssv14365571, nssv14365569, nssv14365566, nssv14365567, nssv14365572, nssv14365568
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGNN
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)nsv3519974
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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