A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215290



Internal ID22361675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8604179..8636998hg38UCSC Ensembl
Outerchr4:8605906..8638724hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385535
hg195535
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273955, nssv14273954
SamplesHG00512, NA19240
Known GenesCPZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215290
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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