A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519697



Internal ID22387019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100473048..100473048hg38UCSC Ensembl
chr1:100938604..100938604hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14386077
SamplesNA19240
Known GenesCDC14A
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)nsv3519697
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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