A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454047



Internal ID232153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174743324..174790662hg38UCSC Ensembl
chr5:174170327..174217665hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3847339
hg1947339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976765
Samples
Known GenesMIR4634
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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