A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514673



Internal ID291167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17884348..17885037hg38UCSC Ensembl
chr19:17995157..17995846hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721981
Samples
Known GenesSLC5A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514673
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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