A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3546554



Internal ID22415540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130193951..130193951hg38UCSC Ensembl
chr11:130063846..130063846hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415626, nssv14380212, nssv14443853
SamplesNA19240, HG00733, HG00514
Known GenesST14
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)nsv3546554
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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