A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247471



Internal ID22376728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:13925580..13936480hg38UCSC Ensembl
Outerchr20:13906226..13917126hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266445, nssv14266446, nssv14266447
SamplesHG00512, NA19239, HG00514
Known GenesSEL1L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247471
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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