A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455298



Internal ID233379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21621113..21622413hg38UCSC Ensembl
chr7:21660731..21662031hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992894
Samples
Known GenesDNAH11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455298
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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