A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254414



Internal ID22294433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:32349446..32384013hg38UCSC Ensembl
Outerchr11:32370992..32405559hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3834568
hg1934568
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228632
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254414
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