A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564710



Internal ID22433439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116225181..116225181hg38UCSC Ensembl
chr7:115865235..115865235hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14338370, nssv14338364, nssv14338367, nssv14338368, nssv14338365, nssv14338369, nssv14338366
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known GenesTES
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)nsv3564710
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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