A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649145



Internal ID21597450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94594216..94594216hg38UCSC Ensembl
chr12:94987992..94987992hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081309
SamplesHG03486
Known GenesTMCC3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649145
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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