A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478608



Internal ID256160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:99586554..99586703hg38UCSC Ensembl
chr10:101346311..101346460hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17038036
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478608
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer