A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262630



Internal ID22273552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78214972..78245969hg38UCSC Ensembl
Outerchr18:75974972..76005969hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383628
hg193628
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241800
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262630
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