A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448968



Internal ID22244345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52908849..52909351hg38UCSC Ensembl
chr20:51525388..51525890hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191873
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)nssv14448968
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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