A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123653



Internal ID21505923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19972102..19972102hg38UCSC Ensembl
chr3:20013594..20013594hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611834
Supporting Variants
SamplesNA19983
Known GenesRAB5A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123653
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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