A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234499



Internal ID22373049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127784938..127806210hg38UCSC Ensembl
Outerchr10:129583202..129604474hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1102n152
Supporting Variantsnssv14253450, nssv14253452, nssv14253451
SamplesHG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234499
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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