A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253960



Internal ID22254705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59277656..59284048hg38UCSC Ensembl
Outerchr11:59045129..59051521hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246283
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253960
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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