A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386037



Internal ID22309637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38919915..38919915hg38UCSC Ensembl
chr13:39494052..39494052hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524784
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)nssv14386037
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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