A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281266



Internal ID22254638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:106972465..106988856hg38UCSC Ensembl
Outerchr9:109734746..109751137hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3816392
hg1916392
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212459
Supporting Variants
SamplesNA19238
Known GenesMIR548Q, ZNF462
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281266
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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