A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385703



Internal ID22310260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61610068..61610068hg38UCSC Ensembl
chr17:59687429..59687429hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524722
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)nssv14385703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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