A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374218



Internal ID22326878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:15209429..15209429hg38UCSC Ensembl
chr10:15251428..15251428hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383788
hg193788
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524024
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14374218
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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