A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393949



Internal ID22451819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38517294..38520167hg38UCSC Ensembl
chr22:38913299..38916172hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382874
hg192874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950814
Supporting Variants
Samples
Known GenesDMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393949
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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