A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416600



Internal ID22152381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93501903..93502148hg38UCSC Ensembl
chr12:93895679..93895924hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193039
Supporting Variants
SamplesHG00514
Known GenesMRPL42
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416600
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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