A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564442



Internal ID22433172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:23700049..23700049hg38UCSC Ensembl
chr6:23700277..23700277hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381457
hg191457
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14326123
SamplesHG00513
Known Genes
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)nsv3564442
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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