A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207902



Internal ID22356231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:107305802..107325499hg38UCSC Ensembl
Outerchr3:107024649..107044346hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3819698
hg1919698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6104n152
Supporting Variantsnssv14270204, nssv14270205, nssv14270199, nssv14270201, nssv14270203, nssv14270200, nssv14270206, nssv14270202
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00883
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207902
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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