A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850977



Internal ID22034620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164950384..164950384hg38UCSC Ensembl
chr2:165806894..165806894hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243388
Supporting Variants
Samples
Known GenesSLC38A11
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850977
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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