A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520542



Internal ID296868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24905246..24906540hg38UCSC Ensembl
chr16:24916567..24917861hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381295
hg191295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706586
Samples
Known GenesSLC5A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520542
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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