A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061465



Internal ID21459166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185082345..185082345hg38UCSC Ensembl
chr1:185051477..185051477hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618202
Supporting Variants
SamplesHG02818
Known GenesRNF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061465
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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