A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562651



Internal ID22431397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15252835..15252835hg38UCSC Ensembl
chr3:15294342..15294342hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305395, nssv14305394, nssv14305393, nssv14305396
SamplesNA19238, NA19239, HG00732, NA19240
Known GenesCAPN7
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)nsv3562651
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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