A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217727



Internal ID22363292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51932476..51932787hg38UCSC Ensembl
chr20:50549015..50549326hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299516, nssv14299515, nssv14299514
SamplesNA19239, HG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217727
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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