A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217600



Internal ID22363207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50750991..50751373hg38UCSC Ensembl
chr20:49367528..49367910hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299485, nssv14299481, nssv14299480, nssv14299484, nssv14299483, nssv14299482
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesPARD6B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217600
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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