A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700980



Internal ID124646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:59688519..59688570hg38UCSC Ensembl
chr15:59980718..59980769hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431373
Supporting Variants
Samples
Known GenesBNIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700980
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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