A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975418



Internal ID22750353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40672603..40672603hg38UCSC Ensembl
chr22:41068607..41068607hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390748
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975418
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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