A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216964



Internal ID22362784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:11854389..11900393hg38UCSC Ensembl
Outerchr11:11875936..11921940hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3846005
hg1946005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253291
SamplesNA19238
Known GenesUSP47
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216964
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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