A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281437



Internal ID22325108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76995136..77004978hg38UCSC Ensembl
Outerchr9:79610052..79619894hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg382486
hg192486
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247989
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281437
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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