A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16285837



Internal ID20495055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179353210..179353210hg38UCSC Ensembl
chr1:179322345..179322345hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757874
Supporting Variants
Samples
Known GenesSOAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16285837
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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