A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387650



Internal ID22306060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67106282..67106282hg38UCSC Ensembl
chr17:65102398..65102398hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522139
Supporting Variants
SamplesNA19240
Known GenesHELZ
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)nssv14387650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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