A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272520



Internal ID22134851
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230181
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272520
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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