A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422225



Internal ID22160679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:115076289..115076289hg38UCSC Ensembl
chr2:115833866..115833866hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519885
Supporting Variants
SamplesHG00514
Known GenesDPP10
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)nssv14422225
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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