A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220499



Internal ID22365176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15264559..15272959hg38UCSC Ensembl
Outerchr3:15306066..15314466hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg382356
hg192356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271319, nssv14271318
SamplesNA19238, HG00513
Known GenesSH3BP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220499
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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