A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221314



Internal ID22365742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149484742..149556941hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg384119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv414n152
Supporting Variantsnssv14270033, nssv14270031, nssv14263244, nssv14270030, nssv14263246, nssv14270032, nssv14263245, nssv14270029, nssv14263243
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221314
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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