A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248768



Internal ID22377079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47889153..47908980hg38UCSC Ensembl
Outerchr11:47910705..47930532hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg384272
hg194272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253919, nssv14253918, nssv14253917, nssv14253916, nssv14253915, nssv14253922, nssv14253923, nssv14253921, nssv14253920
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248768
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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