A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220628



Internal ID22365276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2643641..2756452hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38193003
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43n152
Supporting Variantsnssv14272335, nssv14272336, nssv14272337
SamplesHG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220628
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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