A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973361



Internal ID22748296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93501897..93501897hg38UCSC Ensembl
chr12:93895673..93895673hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366883
Samples
Known GenesMRPL42
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973361
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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