A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16275458



Internal ID20484676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501164..45501164hg38UCSC Ensembl
chr3:45542656..45542656hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4753774
Supporting Variants
Samples
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16275458
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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