A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522899



Internal ID299155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67964154..67964224hg38UCSC Ensembl
chr16:67998057..67998127hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707541
Samples
Known GenesSLC12A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522899
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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