A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130307



Internal ID21485783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45988352..45988352hg38UCSC Ensembl
chr21:47408266..47408266hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669877
Supporting Variants
SamplesNA12878
Known GenesCOL6A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130307
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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