A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17039716



Internal ID94199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112370859..112372003hg38UCSC Ensembl
chr10:114130617..114131761hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg381145
hg191145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498955
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17039716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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