A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5671509



Internal ID21619814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50285292..50285292hg38UCSC Ensembl
chr22:50723721..50723721hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17129530
SamplesHG03683
Known GenesPLXNB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5671509
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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