A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504871



Internal ID281666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62819054..62820088hg38UCSC Ensembl
chr11:62586526..62587560hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047881
Samples
Known GenesSTX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504871
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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