A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612093



Internal ID21560398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197180632..197180632hg38UCSC Ensembl
chr1:197149762..197149762hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382392
hg192392
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061901
SamplesHG02011
Known GenesZBTB41
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612093
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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