A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087654



Internal ID21491293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47469786..47469786hg38UCSC Ensembl
chr13:48043921..48043921hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655241
Supporting Variants
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17087654
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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