A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14286546



Internal ID22231271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:67163557..67164040hg38UCSC Ensembl
chr18:64830794..64831277hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222706
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14286546
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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