A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230768



Internal ID22372025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:184432..244899hg38UCSC Ensembl
Outerchr16:234431..294898hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382478
hg192478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259803, nssv14259804
SamplesHG00512, HG00732
Known GenesITFG3, LUC7L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230768
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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