A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17094730



Internal ID21484628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52123273..52123273hg38UCSC Ensembl
chr14:52589991..52589991hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646540
Supporting Variants
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17094730
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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