A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285530



Internal ID22271407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61894851..61895950hg38UCSC Ensembl
chr18:59562084..59563183hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225400
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer