A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548509



Internal ID22417463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127466082..127466082hg38UCSC Ensembl
chr11:127335977..127335977hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415607
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3548509
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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