A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892646



Internal ID169278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11239533..11239567hg38UCSC Ensembl
chr1:11299590..11299624hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403705
Supporting Variants
Samples
Known GenesMTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892646
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.018108


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