A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451636



Internal ID22219647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140087085..140087085hg38UCSC Ensembl
chr3:139805927..139805927hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521011
Supporting Variants
SamplesHG00733
Known GenesCLSTN2
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)nssv14451636
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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