A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475155



Internal ID252801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129619353..129619414hg38UCSC Ensembl
chr9:132381632..132381693hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028107
Samples
Known GenesC9orf50, NTMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475155
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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