A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559007



Internal ID332055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28542381..28542428hg38UCSC Ensembl
chr8:28399898..28399945hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010163
Samples
Known GenesFZD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559007
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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