A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214655



Internal ID22361248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50506651..50510750hg38UCSC Ensembl
chr19:51009908..51014007hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291732, nssv14291731, nssv14291727, nssv14291733, nssv14291735, nssv14291728, nssv14291730, nssv14291734, nssv14291729
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesJOSD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214655
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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