A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220092



Internal ID22364900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3173312..3175787hg38UCSC Ensembl
chr19:3173310..3175785hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4081n152
Supporting Variantsnssv14291225, nssv14291226, nssv14291221, nssv14291228, nssv14291223, nssv14291227, nssv14291222, nssv14291224
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220092
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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