A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511513



Internal ID288091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60501683..60501890hg38UCSC Ensembl
chr11:60269156..60269363hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047812
Samples
Known GenesMS4A12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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