A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419746



Internal ID22157028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46335570..46335828hg38UCSC Ensembl
chr18:43915533..43915791hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197286
Supporting Variants
SamplesHG00514
Known GenesRNF165
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14419746
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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