A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17136471



Internal ID21450890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50653591..50660633hg38UCSC Ensembl
chr5:49949425..49956467hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg387043
hg197043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572913
Supporting Variants
SamplesHG01505
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17136471
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