A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546938



Internal ID22415918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:174006..174006hg38UCSC Ensembl
chr11:174006..174006hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg387512
hg197512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392539, nssv14442121, nssv14415154
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3546938
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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