A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491442



Internal ID268682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126663167..126664616hg38UCSC Ensembl
chr9:129425446..129426895hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028717
Samples
Known GenesLMX1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491442
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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