A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040849



Internal ID94949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119066368..119340368hg38UCSC Ensembl
chr10:120825880..121099880hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38274001
hg19274001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511841
Supporting Variants
Samples
Known GenesEIF3A, FAM45A, FAM45B, GRK5, PRDX3, SFXN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040849
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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