A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5656802



Internal ID21605107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92022240..92022240hg38UCSC Ensembl
chr12:92416016..92416016hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17097750
SamplesHG03486
Known GenesC12orf79
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5656802
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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