A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953437



Internal ID22728726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30589688..30589740hg38UCSC Ensembl
chr22:30985675..30985727hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406795
Samples
Known GenesPES1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953437
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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