A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230341



Internal ID22371896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2293533..2309265hg38UCSC Ensembl
Outerchr4:2295260..2310992hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272894, nssv14272892, nssv14272893, nssv14272891
SamplesHG00512, NA19238, NA19239, HG00513
Known GenesZFYVE28
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230341
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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