A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5658794



Internal ID21607099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106497168..106497168hg38UCSC Ensembl
chr12:106890946..106890946hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077087
SamplesHG00731
Known GenesLOC100287944, POLR3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5658794
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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