A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991841



Internal ID61992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4041018..4686749hg38UCSC Ensembl
chr7:4080650..4726380hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38645732
hg19645731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473109
Supporting Variants
Samples
Known GenesFOXK1, SDK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991841
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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