A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919530



Internal ID22694752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100674447..100677181hg38UCSC Ensembl
chr8:101686675..101689409hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438622
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919530
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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