A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17133916



Internal ID21416250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50285292..50285579hg38UCSC Ensembl
chr22:50723721..50724008hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5588467
Supporting Variants
SamplesHG00731
Known GenesPLXNB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17133916
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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