A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233144



Internal ID22372678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:38474632..38632241hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3845287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv882n152
Supporting Variantsnssv14280713, nssv14280712, nssv14280714
SamplesHG00512, NA19238, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233144
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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