A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17132166



Internal ID21493968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518424..197518424hg38UCSC Ensembl
chr3:197245295..197245295hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622719
Supporting Variants
SamplesNA19238
Known GenesBDH1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17132166
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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