A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117320



Internal ID21508755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49125569..49127076hg38UCSC Ensembl
chr20:47742106..47743613hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381508
hg191508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5601775
Supporting Variants
SamplesNA20847
Known GenesSTAU1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117320
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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