A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443971



Internal ID22227398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46975691..46975691hg38UCSC Ensembl
chr12:47369474..47369474hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557732
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443971
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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