A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214181



Internal ID22360906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:139343292..139361495hg38UCSC Ensembl
Outerchr6:139664429..139682632hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg386337
hg196337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278951
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214181
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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