A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253652



Internal ID22254579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128208639..128218937hg38UCSC Ensembl
Outerchr11:128078534..128088832hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3810299
hg1910299
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216780
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253652
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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