A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227308



Internal ID22369842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13050524..13080619hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv112n152
Supporting Variantsnssv14260002, nssv14260003
SamplesHG00512, NA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227308
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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