A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205208



Internal ID22353935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165134889..165163246hg38UCSC Ensembl
Outerchr2:165991399..166019756hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3828358
hg1928358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264696, nssv14264698, nssv14264697
SamplesHG00732, HG00513, HG00514
Known GenesSCN3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205208
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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