A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17126466



Internal ID21497431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114123340..114123662hg38UCSC Ensembl
chr5:113459037..113459359hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581472
Supporting Variants
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17126466
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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