A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5631353



Internal ID21579658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23304766..23304766hg38UCSC Ensembl
chr8:23162279..23162279hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38632
hg19632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17155722
SamplesHG02011
Known GenesLOXL2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5631353
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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