A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010629



Internal ID74714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38051897..38056943hg38UCSC Ensembl
chr8:37909415..37914461hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg385047
hg195047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481775
Supporting Variants
Samples
Known GenesEIF4EBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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