A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17038618



Internal ID93485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79414365..79518760hg38UCSC Ensembl
chr10:81174121..81278516hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38104396
hg19104396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5487560
Supporting Variants
Samples
Known GenesEIF5AL1, ZCCHC24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17038618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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