A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704938



Internal ID128604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10142268..10142574hg38UCSC Ensembl
chr16:10236125..10236431hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527686
Supporting Variants
Samples
Known GenesGRIN2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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