A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414830



Internal ID22150291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218465435..218465435hg38UCSC Ensembl
chr1:218638777..218638777hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520160
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14414830
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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