A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960279



Internal ID22735264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164947117..164947117hg38UCSC Ensembl
chr2:165803627..165803627hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395498
Samples
Known GenesSLC38A11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960279
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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