A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400514



Internal ID179895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83634767..83634818hg38UCSC Ensembl
chr11:83345810..83345861hg19UCSC 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 Variantsnssv17048464
Samples
Known GenesDLG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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