A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419139



Internal ID22156110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57969305..57969305hg38UCSC Ensembl
chr17:56046666..56046666hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522803
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)nssv14419139
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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