A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450263



Internal ID22245462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33237041..33237499hg38UCSC Ensembl
chr20:31824847..31825305hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191352
Supporting Variants
SamplesHG00733
Known GenesBPIFA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450263
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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