A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376146



Internal ID22322648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112314099..112314099hg38UCSC Ensembl
chr10:114073857..114073857hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523421
Supporting Variants
SamplesNA19240
Known GenesGUCY2GP
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)nssv14376146
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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