A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463216



Internal ID241126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132173320..132194602hg38UCSC Ensembl
chr6:132494460..132515742hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3821283
hg1921283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970040
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463216
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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