A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564483



Internal ID22433213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77805862..77805862hg38UCSC Ensembl
chr6:78515579..78515579hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383274
hg193274
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14328610
SamplesNA19239
Known GenesMEI4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564483
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer