A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253331



Internal ID22254452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57983799..58001079hg38UCSC Ensembl
Outerchr11:57751271..57768551hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3817281
hg1917281
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225666
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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