A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699582



Internal ID123248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:27060878..27099303hg38UCSC Ensembl
chr15:27306025..27344450hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg3838426
hg1938426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497283
Supporting Variants
Samples
Known GenesGABRG3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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