A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564305



Internal ID22433036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130952359..130952359hg38UCSC Ensembl
chr6:131273499..131273499hg19UCSC Ensembl
Cytoband6q23.2
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 Variantsnssv14330974, nssv14330971, nssv14330973, nssv14330972
SamplesHG00512, HG00731, HG00732, HG00733
Known GenesEPB41L2
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)nsv3564305
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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