A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444140



Internal ID22227230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29465126..29465479hg38UCSC Ensembl
chr13:30039263..30039616hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193849
Supporting Variants
SamplesHG00733
Known GenesMTUS2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444140
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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