A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228281



Internal ID22370523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63198670..63198722hg38UCSC Ensembl
chr18:60865903..60865955hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285593
SamplesHG00731
Known GenesBCL2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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