A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221391



Internal ID22365795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:49896239..49900516hg38UCSC Ensembl
Outerchr6:49863952..49868229hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279466
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221391
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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