A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475076



Internal ID252722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29603520..29603592hg38UCSC Ensembl
chr8:29461036..29461108hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011194
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475076
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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