A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223191



Internal ID22367038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59517447..59532026hg38UCSC Ensembl
Outerchr4:60383165..60397744hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381962
hg191962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273987, nssv14273988, nssv14273989
SamplesHG00512, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223191
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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