A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969810



Internal ID22744745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25792353..25792353hg38UCSC Ensembl
chr22:26188320..26188320hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390390
Samples
Known GenesMYO18B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969810
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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