A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548311



Internal ID322078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:24979859..24979885hg38UCSC Ensembl
chr7:25019478..25019504hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994194
Samples
Known GenesOSBPL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548311
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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