A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851030



Internal ID22034673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170253732..170253732hg38UCSC Ensembl
chr2:171110242..171110242hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6243449
Supporting Variants
Samples
Known GenesMYO3B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851030
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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