A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454710



Internal ID22249258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25886226..25886358hg38UCSC Ensembl
chr8:25743742..25743874hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178431
Supporting Variants
SamplesHG00733
Known GenesEBF2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14454710
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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