A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694142



Internal ID117808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110033277..110033328hg38UCSC Ensembl
chr13:110685624..110685675hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558490
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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