A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460206



Internal ID22212760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22736950..22737027hg38UCSC Ensembl
chr8:22594463..22594540hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179725
Supporting Variants
SamplesHG00733
Known GenesPEBP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14460206
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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