A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063260



Internal ID21412721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230555215..230555215hg38UCSC Ensembl
chr1:230690961..230690961hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5617762
Supporting Variants
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063260
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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