A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253660



Internal ID22330441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131322822..131350896hg38UCSC Ensembl
Outerchr11:131192717..131220791hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3828075
hg1928075
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216647
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253660
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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