A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373322



Internal ID22288344
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
SamplesNA19240
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)nssv14373322
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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