A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702194



Internal ID125860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:78492273..78492324hg38UCSC Ensembl
chr15:78784615..78784666hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421178
Supporting Variants
Samples
Known GenesIREB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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