A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701362



Internal ID125028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55413150..55422927hg38UCSC Ensembl
chr15:55705348..55715125hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg389778
hg199778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517722
Supporting Variants
Samples
Known GenesC15orf65, DYX1C1, DYX1C1-CCPG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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