A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223456



Internal ID22367221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:153126925..153134287hg38UCSC Ensembl
Outerchr4:154048077..154055439hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381795
hg191795
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274574
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223456
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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