A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138306



Internal ID21487753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134538531..134538531hg38UCSC Ensembl
chr3:134257373..134257373hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610505
Supporting Variants
SamplesNA18534
Known GenesCEP63
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138306
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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