A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531020



Internal ID306984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68284422..68299217hg38UCSC Ensembl
chr16:68318325..68333120hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3814796
hg1914796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707558
Samples
Known GenesSLC7A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531020
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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