A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398208



Internal ID22320797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108471071..108471071hg38UCSC Ensembl
chr3:108189918..108189918hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540479
Supporting Variants
SamplesNA19240
Known GenesMYH15
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)nssv14398208
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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