A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495247



Internal ID272366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117548667..117549854hg38UCSC Ensembl
chr11:117419382..117420569hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050437
Samples
Known GenesDSCAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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