A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553002



Internal ID326293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124670518..124670526hg38UCSC Ensembl
chr9:127432797..127432805hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028634
Samples
Known GenesMIR181A2HG, NR6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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