A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14396300



Internal ID22300026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43799431..43799491hg38UCSC Ensembl
chr21:45219312..45219372hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205397
Supporting Variants
SamplesNA19240
Known GenesRRP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14396300
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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