A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213739



Internal ID22360590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40089101..40092700hg38UCSC Ensembl
chr17:38245354..38248953hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3558n152
Supporting Variantsnssv14392367, nssv14380451, nssv14381367, nssv14374317, nssv14385083, nssv14379732, nssv14383110, nssv14375423, nssv14389763
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTHRA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213739
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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