A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230181



Internal ID22371788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152981868..153029031hg38UCSC Ensembl
Outerchr3:152699657..152746820hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg385642
hg195642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272519, nssv14272520
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230181
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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