A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198138



Internal ID22347908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207609758..207612060hg38UCSC Ensembl
chr2:208474482..208476784hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382303
hg192303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4965n152
Supporting Variantsnssv14295067, nssv14295071, nssv14295068, nssv14295069, nssv14295074, nssv14295072, nssv14295073, nssv14295070, nssv14295075
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMETTL21A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198138
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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