A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466546



Internal ID22215549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46455950..46456234hg38UCSC Ensembl
chr18:44035913..44036197hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206112
Supporting Variants
SamplesHG00733
Known GenesRNF165
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466546
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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