A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975272



Internal ID50902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:158988117..158988168hg38UCSC Ensembl
chr5:158415125..158415176hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398488
Supporting Variants
Samples
Known GenesEBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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