A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414369



Internal ID22149774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14478464..14478464hg38UCSC Ensembl
chr11:14500010..14500010hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519835
Supporting Variants
SamplesHG00514
Known GenesCOPB1
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)nssv14414369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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