A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101224



Internal ID21451760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47696927..47696927hg38UCSC Ensembl
chr18:45223298..45223298hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5662736
Supporting Variants
SamplesHG01596
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101224
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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