A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970669



Internal ID22745604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8561417..8561417hg38UCSC Ensembl
chr19:8626301..8626301hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395672
Samples
Known GenesMYO1F
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970669
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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