A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451563



Internal ID22246585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54619071..54619351hg38UCSC Ensembl
chr3:54653098..54653378hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184032
Supporting Variants
SamplesHG00733
Known GenesCACNA2D3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451563
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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