A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464754



Internal ID22230339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16402652..16405392hg38UCSC Ensembl
chr3:16444159..16446899hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382741
hg192741
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187493
Supporting Variants
SamplesHG00733
Known GenesRFTN1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14464754
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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