A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204062



Internal ID22352975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194660146..194685163hg38UCSC Ensembl
Outerchr3:194380875..194405892hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3825018
hg1925018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271052, nssv14271053, nssv14271764, nssv14271765, nssv14271767, nssv14271766
SamplesHG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLSG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204062
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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