A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563961



Internal ID22432696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110305551..110305551hg38UCSC Ensembl
chr6:110626754..110626754hg19UCSC Ensembl
Cytoband6q21
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 Variantsnssv14330847, nssv14330848, nssv14330849
SamplesNA19238, NA19239, NA19240
Known GenesMETTL24
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)nsv3563961
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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