A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254334



Internal ID22255529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87722645..87734590hg38UCSC Ensembl
Outerchr11:87433537..87445482hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244860
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254334
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