A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707876



Internal ID131542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10039812..10040009hg38UCSC Ensembl
chr16:10133669..10133866hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145440
Supporting Variants
Samples
Known GenesGRIN2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.164901


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer