A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226096



Internal ID22369020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:18156895..18178618hg38UCSC Ensembl
Outerchr4:18158518..18180241hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg381978
hg191978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274214
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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