A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193039



Internal ID22343536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93501903..93502148hg38UCSC Ensembl
chr12:93895679..93895924hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416600
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)nsv3193039
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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