A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564919



Internal ID22433643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97420352..97420352hg38UCSC Ensembl
chr7:97049664..97049664hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385875
hg195875
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14335521, nssv14335522
SamplesHG00512, HG00514
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)nsv3564919
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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