A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409319



Internal ID22297058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42936606..42936665hg38UCSC Ensembl
chr3:42978098..42978157hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3186808
Supporting Variants
SamplesNA19240
Known GenesKRBOX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409319
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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