A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117060



Internal ID21498293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53936454..53936454hg38UCSC Ensembl
chr20:52552993..52552993hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5668639
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117060
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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