A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111579



Internal ID21466036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222719377..222719377hg38UCSC Ensembl
chr2:223584096..223584096hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382576
hg192576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607718
Supporting Variants
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111579
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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