A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683793



Internal ID107459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80335027..80357804hg38UCSC Ensembl
chr10:82094783..82117560hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3822778
hg1922778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481961
Supporting Variants
Samples
Known GenesDYDC1, DYDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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