A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14453377



Internal ID22248138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20528439..20528547hg38UCSC Ensembl
chr8:20385950..20386058hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181448
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14453377
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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