A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434469



Internal ID22177467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39983953..39984880hg38UCSC Ensembl
chr21:41355880..41356807hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38928
hg19928
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199091
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434469
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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