A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367687



Internal ID22593356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112314099..112314099hg38UCSC Ensembl
chr10:114073857..114073857hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950061
Supporting Variants
Samples
Known GenesGUCY2GP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367687
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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