A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975415



Internal ID22750350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27309630..27309630hg38UCSC Ensembl
chr22:27705591..27705591hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391443
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975415
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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