A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395498



Internal ID22453368
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 StatusS
Merged Variantsnsv5960279
Supporting Variants
Samples
Known GenesSLC38A11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395498
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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