A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206538



Internal ID22355059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17481337..17513113hg38UCSC Ensembl
Outerchr3:17522829..17554605hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3831777
hg1931777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270360, nssv14270361, nssv14270362
SamplesNA19238, NA19240, HG00513
Known GenesTBC1D5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206538
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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