A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399846



Internal ID22297420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132469882..132476343hg38UCSC Ensembl
chr12:133046468..133052929hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg386462
hg196462
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209636
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399846
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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