A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17039302



Internal ID93923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119034402..119037698hg38UCSC Ensembl
chr10:120793914..120797210hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg383297
hg193297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496155
Supporting Variants
Samples
Known GenesEIF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17039302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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