A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419801



Internal ID22157104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55904141..55904499hg38UCSC Ensembl
chr18:53571372..53571730hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203489
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14419801
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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