A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457209



Internal ID235259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14020556..14789176hg38UCSC Ensembl
chr7:14060181..14828801hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38768621
hg19768621
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993054
Samples
Known GenesDGKB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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