A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010630



Internal ID74715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38052417..38052417hg38UCSC Ensembl
chr8:37909935..37909935hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536687
Supporting Variants
Samples
Known GenesEIF4EBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.039672


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