A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948550



Internal ID22724026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179353211..179353211hg38UCSC Ensembl
chr1:179322346..179322346hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352165
Samples
Known GenesSOAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948550
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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