A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427920



Internal ID206806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11152309..11154121hg38UCSC Ensembl
chr1:11212366..11214178hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381813
hg191813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892526
Samples
Known GenesMTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427920
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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