A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518482



Internal ID294869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10039599..10053063hg38UCSC Ensembl
chr16:10133456..10146920hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3813465
hg1913465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707875
Samples
Known GenesGRIN2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518482
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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