A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704838



Internal ID128504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4808744..4808782hg38UCSC Ensembl
chr16:4858745..4858783hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541512
Supporting Variants
Samples
Known GenesGLYR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704838
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003746


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