A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564659



Internal ID22433389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44376291..44376291hg38UCSC Ensembl
chr6:44344028..44344028hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14327208
SamplesNA19238
Known GenesSPATS1
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)nsv3564659
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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