A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558407



Internal ID331472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143224277..143224289hg38UCSC Ensembl
chr4:144145430..144145442hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg383191
hg193191
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956461
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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