A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262032



Internal ID22294494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5303339..5345720hg38UCSC Ensembl
Outerchr18:5303338..5345719hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3842382
hg1942382
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214050
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262032
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