A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561590



Internal ID22430358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169555621..169555621hg38UCSC Ensembl
chr1:169524859..169524859hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292694, nssv14292696, nssv14292693, nssv14292695, nssv14292692, nssv14292691
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesF5
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)nsv3561590
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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