A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400482



Internal ID22314748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29492043..29492115hg38UCSC Ensembl
chr13:30066180..30066252hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223670
Supporting Variants
SamplesNA19240
Known GenesMTUS2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400482
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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