A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237043



Internal ID22373775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:51013240..51025628hg38UCSC Ensembl
Outerchr16:51047151..51059539hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259956
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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