A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948115



Internal ID22723605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50653499..50653653hg38UCSC Ensembl
chr20:49270036..49270190hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406384
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948115
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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