A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608045



Internal ID21556350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170648633..170648633hg38UCSC Ensembl
chr2:171505143..171505143hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109648
SamplesHG00731
Known GenesMYO3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608045
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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