A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224113



Internal ID22367651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147840609..147880669hg38UCSC Ensembl
Outerchr6:148161745..148201805hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg388455
hg198455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278954
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224113
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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