A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14461240



Internal ID22213811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:23704136..23704136hg38UCSC Ensembl
chr9:23704134..23704134hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522778
Supporting Variants
SamplesHG00733
Known GenesELAVL2
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)nssv14461240
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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