A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254372



Internal ID22298291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66162624..66174162hg38UCSC Ensembl
Outerchr11:65930095..65941633hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3811539
hg1911539
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213416
Supporting Variants
SamplesNA19240
Known GenesPACS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254372
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