A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253622



Internal ID22254567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102877992..102886399hg38UCSC Ensembl
Outerchr11:102748722..102757129hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg388408
hg198408
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227247
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253622
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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