A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14382555



Internal ID22316098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78351257..78351257hg38UCSC Ensembl
chr17:76347338..76347338hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520074
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)nssv14382555
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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