A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969569



Internal ID22744504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33651225..33651225hg38UCSC Ensembl
chr22:34047211..34047211hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392532
Samples
Known GenesLARGE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969569
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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