A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214534



Internal ID22361160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2580495..2775347hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3867296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267293, nssv14267294, nssv14267292, nssv14267295
SamplesHG00512, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214534
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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