A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551510



Internal ID22420421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25033685..25033685hg38UCSC Ensembl
chr18:22613649..22613649hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419190
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551510
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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