A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557245



Internal ID330348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39274153..39274204hg38UCSC Ensembl
chr4:39275773..39275824hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384018
hg194018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16947240
Samples
Known GenesMIR1273H, WDR19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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