A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192666



Internal ID22343213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160234hg38UCSC Ensembl
chr2:166014693..166016744hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382052
hg192052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296669, nssv14296668, nssv14296670, nssv14296667
SamplesHG00512, HG00732, HG00513, HG00514
Known GenesSCN3A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192666
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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