A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282989



Internal ID22256716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:41293693..41565517hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38456101
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242759
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282989
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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