A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230484



Internal ID22371940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32572438..32572520hg38UCSC Ensembl
chr19:33063344..33063426hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420465
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230484
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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