A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504696



Internal ID281492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:8663000..8668000hg38UCSC Ensembl
chr11:8684547..8689547hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042804
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504696
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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