A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546274



Internal ID22415269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47400981..47400981hg38UCSC Ensembl
chr11:47422532..47422532hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381629
SamplesNA19240
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)nsv3546274
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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