A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282804



Internal ID22156123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:80642698..80671947hg38UCSC Ensembl
Outerchr9:83257613..83286862hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg3829250
hg1929250
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220417
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282804
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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