A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116949



Internal ID21446852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45744194..45758835hg38UCSC Ensembl
chr20:44372833..44387474hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3814642
hg1914642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586471
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116949
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