A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212253



Internal ID22359561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109346337..109365424hg38UCSC Ensembl
Outerchr9:112108617..112127704hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3819088
hg1919088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281290, nssv14281288, nssv14281289
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212253
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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