A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414602



Internal ID22150040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89350311..89350311hg38UCSC Ensembl
chr10:91110068..91110068hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520217
Supporting Variants
SamplesHG00514
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)nssv14414602
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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