A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216167



Internal ID22362256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58599024..58599112hg38UCSC Ensembl
chr20:57174080..57174168hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5325n152
Supporting Variantsnssv14301025, nssv14301024
SamplesHG00732, HG00733
Known GenesAPCDD1L-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216167
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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