A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221861



Internal ID22366106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48005643..48006152hg38UCSC Ensembl
chr18:45532014..45532523hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38510
hg19510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284064, nssv14284068, nssv14284065, nssv14284067, nssv14284066
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221861
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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