A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479246



Internal ID256776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37604187..37604333hg38UCSC Ensembl
chr8:37461705..37461851hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010600
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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