A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230953



Internal ID22372085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:19947148..20032975hg38UCSC Ensembl
Outerchr14:20415307..20501134hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3823473
hg1923473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259041
SamplesHG00513
Known GenesOR4K14, OR4K15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230953
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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