A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396250



Internal ID175670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:79020322..79020373hg38UCSC Ensembl
chr11:78731367..78731418hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048664
Samples
Known GenesTENM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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