A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261807



Internal ID22119712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3028058..3054048hg38UCSC Ensembl
Outerchr18:3028056..3054046hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381104
hg191104
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238639
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261807
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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