A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292695



Internal ID22279145
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561590
Supporting Variants
SamplesNA19239
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)nssv14292695
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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