A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547868



Internal ID22416832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:107079666..107079666hg38UCSC Ensembl
chr9:109841947..109841947hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404200, nssv14428881, nssv14456572
SamplesNA19240, HG00733, HG00514
Known GenesMIR548Q
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)nsv3547868
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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