A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451608



Internal ID22219674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133254447..133254520hg38UCSC Ensembl
chr3:132973291..132973364hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183264
Supporting Variants
SamplesHG00733
Known GenesTMEM108
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451608
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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