A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217491



Internal ID22363134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193620164..193639588hg38UCSC Ensembl
Outerchr3:193337953..193357377hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38974
hg19974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272041
SamplesNA19238
Known GenesOPA1, OPA1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217491
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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