A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451204



Internal ID22246281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44306106..44306158hg38UCSC Ensembl
chr21:45725989..45726041hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204933
Supporting Variants
SamplesHG00733
Known GenesPFKL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451204
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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