A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606918



Internal ID21555223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179850072..179850072hg38UCSC Ensembl
chr1:179819207..179819207hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061423
SamplesNA19239
Known GenesTOR1AIP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606918
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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