A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417153



Internal ID22153234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32784980..32784980hg38UCSC Ensembl
chr14:33254186..33254186hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520778
Supporting Variants
SamplesHG00514
Known GenesAKAP6
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)nssv14417153
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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