A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195983



Internal ID22346077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197163037..197232388hg38UCSC Ensembl
Outerchr3:196889908..196959259hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3869352
hg1969352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270899, nssv14270898
SamplesHG00732, HG00733
Known GenesDLG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195983
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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