A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17119474



Internal ID21449679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45155473..45155473hg38UCSC Ensembl
chr21:46575388..46575388hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5665570
Supporting Variants
SamplesHG01114
Known GenesADARB1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17119474
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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