A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607416



Internal ID21555721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453222..229453222hg38UCSC Ensembl
chr1:229588969..229588969hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063223
SamplesNA19238
Known GenesNUP133
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607416
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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