A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385231



Internal ID22301065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78141369..78141369hg38UCSC Ensembl
chr1:78607053..78607053hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519958
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385231
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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