A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5655089



Internal ID21603394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53753846..53753846hg38UCSC Ensembl
chr12:54147630..54147630hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092455
SamplesHG00732
Known GenesCISTR-ACT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5655089
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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