A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216523



Internal ID22362492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:23718782..23734353hg38UCSC Ensembl
Outerchr11:23740328..23755899hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3815572
hg1915572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253859, nssv14253858
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216523
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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