A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253658



Internal ID22257782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:130323422..130370968hg38UCSC Ensembl
Outerchr11:130193317..130240863hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3847547
hg1947547
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214632
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253658
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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