A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253067



Internal ID22253084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76425967..76442539hg38UCSC Ensembl
Outerchr11:76137011..76153583hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3816573
hg1916573
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223413
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253067
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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