A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757874



Internal ID20533734
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 StatusM
Merged Variants
Supporting Variantsnssv16285837
Samples
Known GenesSOAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757874
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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