A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241872



Internal ID22375093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:18873183..18878599hg38UCSC Ensembl
Outerchr13:19447323..19452739hg19UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg385953
hg195953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256557, nssv14256558
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241872
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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