A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391444



Internal ID22449314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48397995..48458307hg38UCSC Ensembl
chr22:48793807..48854119hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3860313
hg1960313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5960348
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391444
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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