A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416201



Internal ID22151838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116277336..116277450hg38UCSC Ensembl
chr12:116715141..116715255hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197515
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416201
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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