A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236665



Internal ID22373657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:105080821..105095263hg38UCSC Ensembl
Outerchr9:107843102..107857544hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg384573
hg194573
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283627, nssv14283632, nssv14283630, nssv14283628, nssv14283629, nssv14283631
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236665
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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