A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563286



Internal ID22432024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42787595..42787595hg38UCSC Ensembl
chr3:42829087..42829087hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306133, nssv14306135, nssv14306752, nssv14306753, nssv14306755, nssv14306134, nssv14306757, nssv14306756, nssv14306754
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHIGD1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563286
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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