A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211497



Internal ID22359039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51198755..51199190hg38UCSC Ensembl
chr18:48725125..48725560hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284213, nssv14284212, nssv14284211
SamplesHG00731, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211497
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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