A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223670



Internal ID22367364
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 StatusM
Merged Variantsdgv2203n152
Supporting Variantsnssv14400482
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)nsv3223670
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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