A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647407



Internal ID21595712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121747853..121747853hg38UCSC Ensembl
chr12:122185759..122185759hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077627
SamplesHG00731
Known GenesTMEM120B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647407
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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