A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454414



Internal ID232515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99013000..99021381hg38UCSC Ensembl
chr4:99934151..99942532hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg388382
hg198382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953853
Samples
Known GenesMETAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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