A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285696



Internal ID20494914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11250051..11250179hg38UCSC Ensembl
chr1:11310108..11310236hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4750234
Supporting Variants
Samples
Known GenesMTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285696
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer