A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228424



Internal ID22370609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149650261..149672513hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272445, nssv14272446
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228424
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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