A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654805



Internal ID21603110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125190478..125190478hg38UCSC Ensembl
chr12:125675024..125675024hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077350
SamplesHG03683
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654805
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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