A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502448



Internal ID279315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46130218..46131348hg38UCSC Ensembl
chr11:46151769..46152899hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688379
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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