A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523970



Internal ID300184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18904351..18905260hg38UCSC Ensembl
chr16:18915673..18916582hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38910
hg19910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706106
Samples
Known GenesSMG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523970
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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