A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447063



Internal ID22242703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2480930..2480930hg38UCSC Ensembl
chr19:2480928..2480928hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523521
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447063
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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