A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519819



Internal ID22389226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94950280..94950587hg38UCSC Ensembl
chr12:95344056..95344363hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1954n152
Supporting Variantsnssv14364989, nssv14364988, nssv14364990, nssv14364987, nssv14364991
SamplesHG00512, NA19239, NA19240, 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)nsv3519819
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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