A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471306



Internal ID249046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16875809..17377161hg38UCSC Ensembl
chr7:16915433..17416785hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38501353
hg19501353
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993854
Samples
Known GenesAGR3, AHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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