A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527259



Internal ID22396646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48259259..48259525hg38UCSC Ensembl
chr18:45785630..45785896hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284081
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527259
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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