A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216361



Internal ID22362377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49773899..49774262hg38UCSC Ensembl
chr20:48390436..48390799hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299451, nssv14299449, nssv14299450
SamplesHG00731, NA19240, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216361
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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