A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196240



Internal ID22346283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151157515..151159382hg38UCSC Ensembl
chr1:151129991..151131858hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381868
hg191868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285879, nssv14285880, nssv14285882, nssv14285886, nssv14285878, nssv14285881, nssv14285885, nssv14285884, nssv14285883
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTNFAIP8L2, TNFAIP8L2-SCNM1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196240
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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