A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390347



Internal ID22305332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68866111..68868257hg38UCSC Ensembl
chr14:69332828..69334974hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382147
hg192147
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206817
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390347
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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