A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248780



Internal ID22377085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35933883..35958055hg38UCSC Ensembl
Outerchr14:36403089..36427261hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381569
hg191569
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259005, nssv14259006
SamplesNA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248780
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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