A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220293



Internal ID22365027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:108395728..108411647hg38UCSC Ensembl
Outerchr4:109316884..109332803hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274202, nssv14274201, nssv14274200
SamplesHG00512, NA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220293
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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