A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241987



Internal ID22375129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3611785..3635526hg38UCSC Ensembl
Outerchr16:3661786..3685527hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383370
hg193370
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259940, nssv14259939
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241987
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer