A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223268



Internal ID22367094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:94891377..94944610hg38UCSC Ensembl
Outerchr3:94610221..94663454hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg383742
hg193742
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272210, nssv14272214, nssv14272208, nssv14272209, nssv14272206, nssv14272207, nssv14272212, nssv14272213, nssv14272211
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00879
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223268
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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