A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447008



Internal ID22242658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68676819..68677008hg38UCSC Ensembl
chr18:66344056..66344245hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209741
Supporting Variants
SamplesHG00733
Known GenesTMX3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447008
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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