A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704842



Internal ID128508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4828200..4829686hg38UCSC Ensembl
chr16:4878201..4879687hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381487
hg191487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528950
Supporting Variants
Samples
Known GenesGLYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704842
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003592


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