A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317343



Internal ID22130139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139726640..139726640hg38UCSC Ensembl
chr4:140647794..140647794hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38818
hg19818
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563184
Supporting Variants
SamplesHG00513
Known GenesMAML3, MGST2
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)nssv14317343
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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