A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421114



Internal ID22159039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43780540..43780540hg38UCSC Ensembl
chr19:44284692..44284692hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557650
Supporting Variants
SamplesHG00514
Known GenesKCNN4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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